81 results on '"Godefroid N"'
Search Results
2. Haemolytic uremic syndrome surveillance in children less than 15 years in Belgium, 2009–2015
- Author
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Jacquinet, S., De Rauw, K., Pierard, D., Godefroid, N., Collard, L., Van Hoeck, K., and Sabbe, M.
- Published
- 2018
- Full Text
- View/download PDF
3. Presentation and management of mycotic pseudoaneurysm after kidney transplantation
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Patrono, D., Verhelst, R., Buemi, A., Darius, T., Godefroid, N., and Mourad, M.
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- 2015
- Full Text
- View/download PDF
4. ADPedKD: A Global Online Platform on the Management of Children With
- Author
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De Rechter, S, Bockenhauer, D, Guay-Woodford, LM, Liu, I, Mallett, AJ, Soliman, NA, Sylvestre, LC, Schaefer, F, Liebau, MC, Mekahli, D, Adamczyk, P, Akinci, N, Alpay, H, Ardelean, C, Ayasreh, N, Aydin, Z, Bael, A, Baudouin, V, Bayrakci, US, Bensman, A, Bialkevich, H, Biebuyck, A, Boyer, O, Bjanid, O, Brylka, A, Caliskan, S, Cambier, A, Camelio, A, Carbone, V, Charbit, M, Chiodini, B, Chirita, A, Cicek, N, Cerkauskiene, R, Collard, L, Conceicao, M, Constantinescu, I, Couderc, A, Crapella, B, Cvetkovic, M, Dima, B, Diomeda, F, Docx, M, Dolan, N, Dossier, C, Drozdz, D, Drube, J, Dunand, O, Dusan, P, Eid, LA, Emma, F, Hernandez, ME, Fila, M, Furlano, M, Gafencu, M, Ghuysen, M, Giani, M, Giordano, M, Girisgen, I, Godefroid, N, Godron-Dubrasquet, A, Gojkovic, I, Gonzalez, E, Gokce, I, Groothoff, JW, Guarino, S, Guffens, A, Hansen, P, Harambat, J, Haumann, S, He, G, Heidet, L, Helmy, R, Hemery, F, Hooman, N, Ilanas, B, Jankauskiene, A, Janssens, P, Karamaria, S, Kazyra, I, Koenig, J, Krid, S, Krug, P, Kwon, V, La Manna, A, Leroy, V, Litwin, M, Lombet, J, Longo, G, Lungu, AC, Mallawaarachchi, A, Marin, A, Marzuillo, P, Massella, L, Mastrangelo, A, McCarthy, H, Miklaszewska, M, Moczulska, A, Montini, G, Morawiec-Knysak, A, Morin, D, Murer, L, Negru, I, Nobili, F, Obrycki, L, Otoukesh, H, Ozcan, S, Pape, L, Papizh, S, Parvex, P, Pawlak-Bratkowska, M, Prikhodina, L, Prytula, A, Quinlan, C, Raes, A, Ranchin, B, Ranguelov, N, Repeckiene, R, Ronit, C, Salomon, R, Santagelo, R, Saygili, SK, Schaefer, S, Schreuder, M, Schurmans, T, Seeman, T, Segers, N, Sinha, M, Snauwaert, E, Spasojevic, B, Stabouli, S, Stoica, C, Stroescu, R, Szczepanik, E, Szczepanska, M, Taranta-Janusz, K, Teixeira, A, Thumfart, J, Tkaczyk, M, Torra, R, Torres, D, Tram, N, Utsch, B, Vande Walle, J, Vieux, R, Vitkevic, R, Wilhelm-Bals, A, Wuhl, E, Yildirim, ZY, Yuksel, S, and Zachwieja, K
- Abstract
Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. For several decades, ADPKD was regarded as an adult-onset disease. In the past decade, it has become more widely appreciated that the disease course begins in childhood. However, evidence-based guidelines on how to manage and approach children diagnosed with or at risk of ADPKD are lacking. Also, scoring systems to stratify patients into risk categories have been established only for adults. Overall, there are insufficient data on the clinical course during childhood. We therefore initiated the global ADPedKD project to establish a large international pediatric ADPKD cohort for deep characterization. Methods: Global ADPedKD is an international multicenter observational study focusing on childhood-diagnosed ADPKD. This collaborative project is based on interoperable Web-based databases, comprising 7 regional and independent but uniformly organized chapters, namely Africa, Asia, Australia, Europe, North America, South America, and the United Kingdom. In the database, a detailed basic data questionnaire, including genetics, is used in combination with data entry from follow-up visits, to provide both retrospective and prospective longitudinal data on clinical, radiologic, and laboratory findings, as well as therapeutic interventions. Discussion: The global ADPedKD initiative aims to characterize in detail the most extensive international pediatric ADPKD cohort reported to date, providing evidence for the development of unified diagnostic, follow-up, and treatment recommendations regarding modifiable disease factors. Moreover, this registry will serve as a platform for the development of clinical and/or biochemical markers predicting the risk of early and progressive disease. C1 [De Rechter, Stephanie; Mekahli, Djalila] Univ Hosp Leuven, Dept Pediat Nephrol, Herestr 49, B-3000 Leuven, Belgium. [De Rechter, Stephanie; Mekahli, Djalila] Katholieke Univ Leuven, Dept Dev & Regenerat, PKD Res Grp, Leuven, Belgium. [Bockenhauer, Detlef] UCL Ctr Nephrol, London, England. [Bockenhauer, Detlef] Great Ormond St Hosp NHS Fdn Trust, London, England. [Guay-Woodford, Lisa M.] Childrens Natl Hlth Syst, Ctr Translat Sci, Washington, DC USA. [Liu, Isaac] Natl Univ Hlth Syst, Khoo Teck Puat Natl Univ, Childrens Med Inst, Singapore, Singapore. [Mallett, Andrew J.] Royal Brisbane & Womens Hosp, Kidney Hlth Serv, Brisbane, Qld, Australia. [Mallett, Andrew J.] Royal Brisbane & Womens Hosp, Conjoint Renal Res Lab, Brisbane, Qld, Australia. [Mallett, Andrew J.] Univ Queensland, Fac Med, Brisbane, Qld, Australia. [Mallett, Andrew J.] Univ Queensland, Inst Mol Biosci, Brisbane, Qld, Australia. [Mallett, Andrew J.] KidGen Collaborat & Australian Genom Hlth Allianc, Melbourne, Vic, Australia. [Soliman, Neveen A.] Cairo Univ, Ctr Pediat Nephrol & Transplantat, Kasr Al Ainy Sch Med, Dept Pediat, Cairo, Egypt. [Sylvestre, Lucimary C.] Hosp Pequeno Principe, Curitiba, Parana, Brazil. [Schaefer, Franz] Heidelberg Univ, Ctr Pediat & Adolescent Med, Div Pediat Nephrol, Med Ctr, Heidelberg, Germany. [Liebau, Max C.] Univ Hosp Cologne, Dept Pediat, Cologne, Germany. [Liebau, Max C.] Univ Hosp Cologne, Ctr Mol Med, Cologne, Germany. [Adamczyk, P.; Bjanid, O.; Brylka, A.; Morawiec-Knysak, A.; Szczepanska, M.] Dept Pediat, Zabrze, Poland. [Akinci, N.] Sariyer SISLI Hamidiye Etfal Res & Educ Hosp, Istanbul, Turkey. [Alpay, H.; Cicek, N.; Gokce, I] Marmara Univ, Sch Med, Div Pediat Nephrol, Istanbul, Turkey. [Ardelean, C.; Chirita, A.; Gafencu, M.; Stroescu, R.] Timisoara Children Hosp, Timisoara, Romania. [Ayasreh, N.; Furlano, M.; Torra, R.] Fundacio Puigvert, Barcelona, Spain. [Aydin, Z.; Bayrakci, U. S.] Ankara Univ Hlth Sci, Child Hlth & Dis, Ankara, Turkey. [Bael, A.; Docx, M.; Segers, N.] Koningin Paola Kinderziekenhuis Antwerpen, Antwerp, Belgium. [Baudouin, V; Cambier, A.; Couderc, A.; Dossier, C.; Kwon, V] Hop Robert Debre, AP HP, Paris, France. [Bensman, A.; Biebuyck, A.; Boyer, O.; Charbit, M.; Heidet, L.; Krid, S.; Krug, P.; Salomon, R.] Pediat Nephrol Necker Hosp, Paris, France. [Bialkevich, H.; Kazyra, I] 2nd City Childrens Clin Hosp, Natl Ctr Pediat Nephrol & RRT, Minsk, BELARUS. [Caliskan, S.; Ozcan, S.; Saygili, S. K.] Istanbul Cerrahpasa Fac Med, Istanbul, Turkey. [Camelio, A.; Nobili, F.; Vieux, R.] CHU Besancon, Besancon, France. [Carbone, V; Diomeda, F.; Torres, D.] Pediat Nephrol Unit Bari, Bari, Italy. [Chiodini, B.] HUDERF, Brussels, Belgium. [Collard, L.] CHR La Citadelle, Liege, Belgium. [Conceicao, M.; Teixeira, A.] Ctr Hosp Porto, Ctr Materno Infantil Norte, Porto, Portugal. [Constantinescu, I; Lungu, A. C.; Marin, A.; Negru, I; Stroescu, R.] Fundeni Clin Inst, Bucharest, Romania. [Crapella, B.; Giani, M.; Mastrangelo, A.; Montini, G.] Fdn IRCCS Ca Granda, Pediat Nephrol Dialysis & Transplant Unit, Milan, Italy. [Cvetkovic, M.; Gojkovic, I] Univ Childrens Hosp, Belgrade, Serbia. [Dima, B.] Clin Europe Hop St Elisabeth, Brussels, Belgium. [Dolan, N.] Our Ladys Childrens Hosp, Dublin, Ireland. [Drozdz, D.; Miklaszewska, M.; Zachwieja, K.] Jagiellonian Univ, Med Coll Cracow, Pediat Nephrol & Hypertens, Krakow, Poland. [Drube, J.; Pape, L.] Hannover Med Sch, Hannover, Germany. [Dunand, O.; Leroy, V] Pediat Nephrol Unit St Denis, St Denis, Reunion, France. [Dusan, P.; Spasojevic, B.; Stabouli, S.] Aristotle Univ Thessaloniki, Dept Pediat, Thessaloniki, Greece. [Eid, L. A.] Dubai Hosp, Pediat Nephrol Dept, Dubai, U Arab Emirates. [Emma, F.; Massella, L.] Bambino Gesu Pediat Hosp, Rome, Italy. [Espino Hernandez, M.] Hosp Infantil 12 Octubre Madrid, Madrid, Spain. [Fila, M.; Hemery, F.; Morin, D.] CHU Arnaud Villeneuve, Montpellier, France. [Ghuysen, Ms] CHU Liege, Liege, Belgium. [Giordano, M.] Pediat Nephrol Unit, Bari, Italy. [Girisgen, I; Yuksel, S.] Pamukkale Univ, Med Fac, Dept Pediat Nephrol, Denizli, Turkey. [Godefroid, N.; Ranguelov, N.] Clin Univ St Luc, Brussels, Belgium. [Godron-Dubrasquet, A.; Harambat, J.; Ilanas, B.] Bordeaux Univ Childrens Hosp, Bordeaux, France. [Gonzalez, E.] Childrens Univ Hosp, Geneva, Switzerland. [Groothoff, J. W.] Emma Childrens Hosp, Amsterdam, Netherlands. [Guarino, S.; La Manna, A.; Marzuillo, P.] Univ Campania Luigi Vanvitelli, Caserta, Italy. [Guffens, A.] CHC Clin Esperence, Montegnee, Belgium. [Hansen, P.] CHU Tivoli, La Louviere, Belgium. [Haumann, S.] Univ Klinikum Koln, Cologne, Germany. [He, G.] Foshan Women & Children Hosp, Foshan, Peoples R China. [Helmy, R.] Cairo Univ, Kasr Al Ainy Sch Med, Cairo, Egypt. [Hooman, N.; Otoukesh, H.] Iran Univ Med Sci, Aliasghar Clin Res Dev Unit, Tehran, Iran. [Janssens, P.] Univ Hosp Brussels, Brussels, Belgium. [Karamaria, S.; Prytula, A.; Raes, A.; Snauwaert, E.; Vande Walle, J.] UZ Gent, Ghent, Belgium. [Koenig, J.] Univ Hosp Muenster, Munster, Germany. [Litwin, M.; Obrycki, L.] Childrens Mem Hlth Inst, Warsaw, Poland. [Lombet, J.] CHR Citadelle, Liege, Belgium. [Longo, G.; Murer, L.] Hosp Univ Padova, Pediat Nephrol Dialysis & Transplant Unit, Padua, Italy. [Mallawaarachchi, A.] Garvan Inst, Darlinghurst, NSW, Australia. [Mallawaarachchi, A.] Royal Prince Alfred Hosp, Camperdown, NSW, Australia. [Mallawaarachchi, A.; McCarthy, H.; Quinlan, C.] KidGen, Sydney, NSW, Australia. [McCarthy, H.] Childrens Hosp Westmead, Westmead, NSW, Australia. [McCarthy, H.] Sydney Childrens Hosp, Sydney, NSW, Australia. [Papizh, S.; Prikhodina, L.] Pirogov Russian Nat Res Med Uni, Res & Clin Inst Pediat, Moscow, Russia. [Parvex, P.; Wilhelm-Bals, A.] Childrens Univ Hosp Geneva, Geneva, Switzerland. [Pawlak-Bratkowska, M.; Szczepanik, E.; Tkaczyk, M.] Polish Mothers Mem Hosp, Res Inst, Lodz, Poland. [Quinlan, C.] RCH Melbourne, Melbourne, Vic, Australia. [Ranchin, B.] Hop Femme Mere Enfant, Bron, France. [Ronit, C.] Ctr Hosp Luxembourg, Clin Pediat, Luxembourg, Luxembourg. [Schaefer, S.; Wuehl, E.] Ctr Pediat & Adolescent, Div Pediat Nephrol, Heidelberg, Germany. [Schreuder, M.] Radboudumc Amalia Childrens Hosp, Nijmegen, Netherlands. [Schurmans, T.; Tram, N.] CHU Charleroi, Charleroi, Belgium. [Seeman, T.] Charles Univ Prague, Prague, Czech Republic. [Seeman, T.] Motol Univ Hosp, Prague, Czech Republic. [Sinha, M.] Evelina London Childrens Hosp, London, England. [Taranta-Janusz, K.] Dept Pediat & Nephrol, Bialystok, Poland. [Thumfart, J.] Berlin Charite Univ Med, Berlin, Germany. [Utsch, B.] Herford Hosp, Dept Paediat, Herford, Germany. [Yildirim, Z. Y.] Istanbul Univ, Fac Med, Pediat Nephrol Dept, Istanbul, Turkey.
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- 2019
5. ADPedKD: A Global Online Platform on the Management of Children With ADPKD
- Author
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De Rechter, Stéphanie, primary, Bockenhauer, Detlef, additional, Guay-Woodford, Lisa M., additional, Liu, Isaac, additional, Mallett, Andrew J., additional, Soliman, Neveen A., additional, Sylvestre, Lucimary C., additional, Schaefer, Franz, additional, Liebau, Max C., additional, Mekahli, Djalila, additional, Adamczyk, P., additional, Akinci, N., additional, Alpay, H., additional, Ardelean, C., additional, Ayasreh, N., additional, Aydin, Z., additional, Bael, A., additional, Baudouin, V., additional, Bayrakci, U.S., additional, Bensman, A., additional, Bialkevich, H., additional, Biebuyck, A., additional, Boyer, O., additional, Bjanid, O., additional, Bryłka, A., additional, Çalışkan, S., additional, Cambier, A., additional, Camelio, A., additional, Carbone, V., additional, Charbit, M., additional, Chiodini, B., additional, Chirita, A., additional, Çiçek, N., additional, Cerkauskiene, R., additional, Collard, L., additional, Conceiçao, M., additional, Constantinescu, I., additional, Couderc, A., additional, Crapella, B., additional, Cvetkovic, M., additional, Dima, B., additional, Diomeda, F., additional, Docx, M., additional, Dolan, N., additional, Dossier, C., additional, Drozdz, D., additional, Drube, J., additional, Dunand, O., additional, Dusan, P., additional, Eid, L.A., additional, Emma, F., additional, Espino Hernandez, M., additional, Fila, M., additional, Furlano, M., additional, Gafencu, M., additional, Ghuysen, M.S., additional, Giani, M., additional, Giordano, M., additional, Girisgen, I., additional, Godefroid, N., additional, Godron-Dubrasquet, A., additional, Gojkovic, I., additional, Gonzalez, E., additional, Gökçe, I., additional, Groothoff, J.W., additional, Guarino, S., additional, Guffens, A., additional, Hansen, P., additional, Harambat, J., additional, Haumann, S., additional, He, G., additional, Heidet, L., additional, Helmy, R., additional, Hemery, F., additional, Hooman, N., additional, llanas, B., additional, Jankauskiene, A., additional, Janssens, P., additional, Karamaria, S., additional, Kazyra, I., additional, Koenig, J., additional, Krid, S., additional, Krug, P., additional, Kwon, V., additional, La Manna, A., additional, Leroy, V., additional, Litwin, M., additional, Lombet, J., additional, Longo, G., additional, Lungu, A.C., additional, Mallawaarachchi, A., additional, Marin, A., additional, Marzuillo, P., additional, Massella, L., additional, Mastrangelo, A., additional, McCarthy, H., additional, Miklaszewska, M., additional, Moczulska, A., additional, Montini, G., additional, Morawiec-Knysak, A., additional, Morin, D., additional, Murer, L., additional, Negru, I., additional, Nobili, F., additional, Obrycki, L., additional, Otoukesh, H., additional, Özcan, S., additional, Pape, L., additional, Papizh, S., additional, Parvex, P., additional, Pawlak-Bratkowska, M., additional, Prikhodina, L., additional, Prytula, A., additional, Quinlan, C., additional, Raes, A., additional, Ranchin, B., additional, Ranguelov, N., additional, Repeckiene, R., additional, Ronit, C., additional, Salomon, R., additional, Santagelo, R., additional, Saygılı, S.K., additional, Schaefer, S., additional, Schreuder, M., additional, Schurmans, T., additional, Seeman, T., additional, Segers, N., additional, Sinha, M., additional, Snauwaert, E., additional, Spasojevic, B., additional, Stabouli, S., additional, Stoica, C., additional, Stroescu, R., additional, Szczepanik, E., additional, Szczepańska, M., additional, Taranta-Janusz, K., additional, Teixeira, A., additional, Thumfart, J., additional, Tkaczyk, M., additional, Torra, R., additional, Torres, D., additional, Tram, N., additional, Utsch, B., additional, Vande Walle, J., additional, Vieux, R., additional, Vitkevic, R., additional, Wilhelm-Bals, A., additional, Wühl, E., additional, Yildirim, Z.Y., additional, Yüksel, S., additional, and Zachwieja, K., additional
- Published
- 2019
- Full Text
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6. Création d’une monnaie unique dans la zone SADC : une vérification empirique par le critère de convergence macroéconomique
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Godefroid NKALA DUBEDUBE
- Subjects
monnaie unique ,méthode de moment généralisée en système ,critères de convergence macroéconomique ,zone sadc. ,Sociology (General) ,HM401-1281 - Abstract
Cet article vérifie la possibilité de la création d'une monnaie unique dans la zone SADC à travers ses critères de convergence macroéconomique (CCME). Pour y parvenir, la méthode de moment généralisé en système est utilisée pour la vérification de beta-convergence (réelle) et le calcul de l’écart-type pour la sigma-convergence (nominale). Après estimations sous le logiciel Stata et calcul statistique sous le logiciel Excel, aucune preuve de convergence macroéconomique n’est vérifiée. Ce qui permet de remettre en cause la possibilité de créer une monnaie unique dans la zone SADC.
- Published
- 2023
7. Important differences in management policies for children with end-stage renal disease in the Netherlands and Belgium - report form the RICH-Q study
- Author
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Tromp, WF, Schoenmaker, NJ, v.d. Lee, JH, Adams, B, Bouts, AHM, Collard, L, Cransberg, Karlien, van Damme-Lombaerts, R, Godefroid, N, Van Hoeck, K, Kamphuis, L, Lilien, MR, Raes, AML, Offringa, M (Martin), Groothoff, JW, and Pediatrics
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- 2012
8. Children of non-Western origin with end-stage renal disease in the Netherlands, Belgium and a part of Germany have impaired health-related quality of life compared with Western children
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Schoenmaker, N. J., primary, Haverman, L., additional, Tromp, W. F., additional, van der Lee, J. H., additional, Offringa, M., additional, Adams, B., additional, Bouts, A. H. M., additional, Collard, L., additional, Cransberg, K., additional, van Dyck, M., additional, Godefroid, N., additional, van Hoeck, K., additional, Koster-Kamphuis, L., additional, Lilien, M. R., additional, Raes, A., additional, Taylan, C., additional, Grootenhuis, M. A., additional, and Groothoff, J. W., additional
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- 2013
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9. Fewer pre-emptive renal transplantations and more rejections in immigrant children compared to native Dutch and Belgian children
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Tromp, W. F., primary, Cransberg, K., additional, van der Lee, J. H., additional, Bouts, A. H., additional, Collard, L., additional, Van Damme-Lombaerts, R., additional, Godefroid, N., additional, Van Hoeck, K. J., additional, Koster-Kamphuis, L., additional, Lilien, M. R., additional, Raes, A., additional, Ranguelov, N., additional, and Groothoff, J. W., additional
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- 2012
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10. Important differences in management policies for children with end-stage renal disease in the Netherlands and Belgium--report from the RICH-Q study
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Tromp, W. F., primary, Schoenmaker, N. J., additional, van der Lee, J. H., additional, Adams, B., additional, Bouts, A. H. M., additional, Collard, L., additional, Cransberg, K., additional, Van Damme-Lombaerts, R., additional, Godefroid, N., additional, van Hoeck, K., additional, Koster-Kamphuis, L., additional, Lilien, M. R., additional, Raes, A., additional, Offringa, M., additional, and Groothoff, J. W., additional
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- 2011
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11. Lessons learned from efforts to improve the quality of care in children with end-stage renal disease in the Netherlands and Belgium
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Tromp, W. F., primary, van der Lee, J. H., additional, Offringa, M., additional, Bouts, A. H. M., additional, Collard, L., additional, Cransberg, K., additional, Van Damme-Lombaerts, R., additional, Godefroid, N., additional, Van Hoeck, K., additional, Koster-Kamphuis, L., additional, Lilien, M. R., additional, Raes, A., additional, and Groothoff, J. W., additional
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- 2011
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12. Expanding the clinical spectrum of congenital nephrotic syndrome caused by NPHS1 mutations
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Godefroid, N., primary and Dahan, K., additional
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- 2010
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13. Clinical characteristics and outcomes of children with stage 3-5 chronic kidney disease.
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Hiep TTM, Ismaili K, Collart F, Van Damme-Lombaerts R, Godefroid N, Ghuysen M, Van Hoeck K, Raes A, Janssen F, and Robert A
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- 2010
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14. Tuberous sclerosis complex: Establishing the correct diagnosis and treatment,Sclérose tubéreuse de bourneville: Poser le diagnostic et traiter à bon escient
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Pirson, Y., Ho, T. -A, Nathalie Demoulin, Godefroid, N., Dekeuleneer, V., Rijckevorsel, K., Nassogne, M. -C, El Tahry, R., and Sznajer, Y.
15. High prevalence of hypertension in a European cohort of children with ADPKD: results of the ADPKiDs study
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Massella, L., Mekahli, D., Paripovic, D., Larisa Prikhodina, Godefroid, N., Niemirska, A., Agbas, A., Kalicka, K., Jankauskiene, A., Mizerska-Wasiak, M., Caldas, A., Salomon, R., Deschenes, G., Ariceta, G., Ozcakar, Z. B., Fteixera, A., Duzova, A., Harambat, J., Seeman, T., Kovacs, L., Lungu, A., Giordano, U., Wuehl, E., Schaefer, F., and Emma, F.
16. Innovations in nephrology: What 2016 brought us,Innovations en néphrologie que retenir de 2016?
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Nathalie Demoulin, Ho, A., Godefroid, N., Clerckx, C., Annet, L., Pirson, Y., Devuyst, O., Jadoul, M., Aydin, S., Goletti, S., Morelle, J., Goffin, E., and Mourad, M.
17. ADPedKD : a global online platform on the management of children with ADPKD
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Stéphanie De Rechter, Detlef Bockenhauer, Lisa M. Guay-Woodford, Isaac Liu, Andrew J. Mallett, Neveen A. Soliman, Lucimary C. Sylvestre, Franz Schaefer, Max C. Liebau, Djalila Mekahli, P. Adamczyk, N. Akinci, H. Alpay, C. Ardelean, N. Ayasreh, Z. Aydin, A. Bael, V. Baudouin, U.S. Bayrakci, A. Bensman, H. Bialkevich, A. Biebuyck, O. Boyer, O. Bjanid, A. Bryłka, S. Çalışkan, A. Cambier, A. Camelio, V. Carbone, M. Charbit, B. Chiodini, A. Chirita, N. Çiçek, R. Cerkauskiene, L. Collard, M. Conceiçao, I. Constantinescu, A. Couderc, B. Crapella, M. Cvetkovic, B. Dima, F. Diomeda, M. Docx, N. Dolan, C. Dossier, D. Drozdz, J. Drube, O. Dunand, P. Dusan, L.A. Eid, F. Emma, M. Espino Hernandez, M. Fila, M. Furlano, M. Gafencu, M.S. Ghuysen, M. Giani, M. Giordano, I. Girisgen, N. Godefroid, A. Godron-Dubrasquet, I. Gojkovic, E. Gonzalez, I. Gökçe, J.W. Groothoff, S. Guarino, A. Guffens, P. Hansen, J. Harambat, S. Haumann, G. He, L. Heidet, R. Helmy, F. Hemery, N. Hooman, B. llanas, A. Jankauskiene, P. Janssens, S. Karamaria, I. Kazyra, J. Koenig, S. Krid, P. Krug, V. Kwon, A. La Manna, V. Leroy, M. Litwin, J. Lombet, G. Longo, A.C. Lungu, A. Mallawaarachchi, A. Marin, P. Marzuillo, L. Massella, A. Mastrangelo, H. McCarthy, M. Miklaszewska, A. Moczulska, G. Montini, A. Morawiec-Knysak, D. Morin, L. Murer, I. Negru, F. Nobili, L. Obrycki, H. Otoukesh, S. Özcan, L. Pape, S. Papizh, P. Parvex, M. Pawlak-Bratkowska, L. Prikhodina, A. Prytula, C. Quinlan, A. Raes, B. Ranchin, N. Ranguelov, R. Repeckiene, C. Ronit, R. Salomon, R. Santagelo, S.K. Saygılı, S. Schaefer, M. Schreuder, T. Schurmans, T. Seeman, N. Segers, M. Sinha, E. Snauwaert, B. Spasojevic, S. Stabouli, C. Stoica, R. Stroescu, E. Szczepanik, M. Szczepańska, K. Taranta-Janusz, A. Teixeira, J. Thumfart, M. Tkaczyk, R. Torra, D. Torres, N. Tram, B. Utsch, J. Vande Walle, R. Vieux, R. Vitkevic, A. Wilhelm-Bals, E. Wühl, Z.Y. Yildirim, S. Yüksel, K. Zachwieja, Clinical sciences, Faculty of Medicine and Pharmacy, Internal Medicine Specializations, Nephrology, İÜC, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, Paediatric Nephrology, AGEM - Inborn errors of metabolism, APH - Quality of Care, APH - Methodology, De Rechter, S., Bockenhauer, D., Guay-Woodford, L. M., Liu, I., Mallett, A. J., Soliman, N. A., Sylvestre, L. C., Schaefer, F., Liebau, M. C., Mekahli, D., Adamczyk, P., Akinci, N., Alpay, H., Ardelean, C., Ayasreh, N., Aydin, Z., Bael, A., Baudouin, V., Bayrakci, U. S., Bensman, A., Bialkevich, H., Biebuyck, A., Boyer, O., Bjanid, O., Brylka, A., Caliskan, S., Cambier, A., Camelio, A., Carbone, V., Charbit, M., Chiodini, B., Chirita, A., Cicek, N., Cerkauskiene, R., Collard, L., Conceicao, M., Constantinescu, I., Couderc, A., Crapella, B., Cvetkovic, M., Dima, B., Diomeda, F., Docx, M., Dolan, N., Dossier, C., Drozdz, D., Drube, J., Dunand, O., Dusan, P., Eid, L. A., Emma, F., Espino Hernandez, M., Fila, M., Furlano, M., Gafencu, M., Ghuysen, M. S., Giani, M., Giordano, M., Girisgen, I., Godefroid, N., Godron-Dubrasquet, A., Gojkovic, I., Gonzalez, E., Gokce, I., Groothoff, J. W., Guarino, S., Guffens, A., Hansen, P., Harambat, J., Haumann, S., He, G., Heidet, L., Helmy, R., Hemery, F., Hooman, N., Llanas, B., Jankauskiene, A., Janssens, P., Karamaria, S., Kazyra, I., Koenig, J., Krid, S., Krug, P., Kwon, V., La Manna, A., Leroy, V., Litwin, M., Lombet, J., Longo, G., Lungu, A. C., Mallawaarachchi, A., Marin, A., Marzuillo, P., Massella, L., Mastrangelo, A., Mccarthy, H., Miklaszewska, M., Moczulska, A., Montini, G., Morawiec-Knysak, A., Morin, D., Murer, L., Negru, I., Nobili, F., Obrycki, L., Otoukesh, H., Ozcan, S., Pape, L., Papizh, S., Parvex, P., Pawlak-Bratkowska, M., Prikhodina, L., Prytula, A., Quinlan, C., Raes, A., Ranchin, B., Ranguelov, N., Repeckiene, R., Ronit, C., Salomon, R., Santagelo, R., Saygili, S. K., Schaefer, S., Schreuder, M., Schurmans, T., Seeman, T., Segers, N., Sinha, M., Snauwaert, E., Spasojevic, B., Stabouli, S., Stoica, C., Stroescu, R., Szczepanik, E., Szczepanska, M., Taranta-Janusz, K., Teixeira, A., Thumfart, J., Tkaczyk, M., Torra, R., Torres, D., Tram, N., Utsch, B., Vande Walle, J., Vieux, R., Vitkevic, R., Wilhelm-Bals, A., Wuhl, E., Yildirim, Z. Y., Yuksel, S., Zachwieja, K., UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de pédiatrie générale, Parvex, Paloma Maria, Gonzalez, Elsa, Wilhelm-Bals, Alexandra, Amsterdam Reproduction & Development (AR&D), De Rechter, Stephanie, Bockenhauer, Detlef, Guay-Woodford, Lisa M., Liu, Isaac, Mallett, Andrew J., Soliman, Neveen A., Sylvestre, Lucimary C., Schaefer, Franz, Liebau, Max C., Mekahli, Djalila, Baudouin, V, Carbone, V, Constantinescu, I, Ghuysen, Ms, Girisgen, I, Gojkovic, I, Gokce, I, Ilanas, B., Kazyra, I, Kwon, V, Leroy, V, McCarthy, H., Negru, I, and Wuehl, E.
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medicine.medical_specialty ,ADPKD ,ADPedKD Registry ,children ,longitudinal ,030232 urology & nephrology ,Autosomal dominant polycystic kidney disease ,Psychological intervention ,CHILDHOOD ,BLOOD-PRESSURE ,PROGRESSION ,Disease ,030204 cardiovascular system & hematology ,urologic and male genital diseases ,lcsh:RC870-923 ,Disease course ,CARDIOVASCULAR-ABNORMALITIES ,03 medical and health sciences ,0302 clinical medicine ,Clinical Research ,LEFT-VENTRICULAR MASS ,Medicine and Health Sciences ,Medicine ,Children ,DISEASE ADPKD ,DOMINANT POLYCYSTIC KIDNEY ,SPECTRUM ,Science & Technology ,ddc:618 ,business.industry ,urogenital system ,Urology & Nephrology ,medicine.disease ,lcsh:Diseases of the genitourinary system. Urology ,female genital diseases and pregnancy complications ,3. Good health ,Disease factors ,Nephrology ,Family medicine ,Cohort ,RENAL CONCENTRATING CAPACITY ,VOLUME ,Observational study ,business ,Life Sciences & Biomedicine ,Progressive disease - Abstract
Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. For several decades, ADPKD was regarded as an adult-onset disease. In the past decade, it has become more widely appreciated that the disease course begins in childhood. However, evidence-based guidelines on how to manage and approach children diagnosed with or at risk of ADPKD are lacking. Also, scoring systems to stratify patients into risk categories have been established only for adults. Overall, there are insufficient data on the clinical course during childhood. We therefore initiated the global ADPedKD project to establish a large international pediatric ADPKD cohort for deep characterization., Methods: Global ADPedKD is an international multicenter observational study focusing on childhood-diagnosed ADPKD. This collaborative project is based on interoperable Web-based databases, comprising 7 regional and independent but uniformly organized chapters, namely Africa, Asia, Australia, Europe, North America, South America, and the United Kingdom. In the database, a detailed basic data questionnaire, including genetics, is used in combination with data entry from follow-up visits, to provide both retrospective and prospective longitudinal data on clinical, radiologic, and laboratory findings, as well as therapeutic interventions., Discussion: The global ADPedKD initiative aims to characterize in detail the most extensive international pediatric ADPKD cohort reported to date, providing evidence for the development of unified diagnostic, follow-up, and treatment recommendations regarding modifiable disease factors. Moreover, this registry will serve as a platform for the development of clinical and/or biochemical markers predicting the risk of early and progressive disease., C1 [De Rechter, Stephanie; Mekahli, Djalila] Univ Hosp Leuven, Dept Pediat Nephrol, Herestr 49, B-3000 Leuven, Belgium., [De Rechter, Stephanie; Mekahli, Djalila] Katholieke Univ Leuven, Dept Dev & Regenerat, PKD Res Grp, Leuven, Belgium., [Bockenhauer, Detlef] UCL Ctr Nephrol, London, England., [Bockenhauer, Detlef] Great Ormond St Hosp NHS Fdn Trust, London, England., [Guay-Woodford, Lisa M.] Childrens Natl Hlth Syst, Ctr Translat Sci, Washington, DC USA., [Liu, Isaac] Natl Univ Hlth Syst, Khoo Teck Puat Natl Univ, Childrens Med Inst, Singapore, Singapore., [Mallett, Andrew J.] Royal Brisbane & Womens Hosp, Kidney Hlth Serv, Brisbane, Qld, Australia., [Mallett, Andrew J.] Royal Brisbane & Womens Hosp, Conjoint Renal Res Lab, Brisbane, Qld, Australia., [Mallett, Andrew J.] Univ Queensland, Fac Med, Brisbane, Qld, Australia., [Mallett, Andrew J.] Univ Queensland, Inst Mol Biosci, Brisbane, Qld, Australia., [Mallett, Andrew J.] KidGen Collaborat & Australian Genom Hlth Allianc, Melbourne, Vic, Australia., [Soliman, Neveen A.] Cairo Univ, Ctr Pediat Nephrol & Transplantat, Kasr Al Ainy Sch Med, Dept Pediat, Cairo, Egypt., [Sylvestre, Lucimary C.] Hosp Pequeno Principe, Curitiba, Parana, Brazil., [Schaefer, Franz] Heidelberg Univ, Ctr Pediat & Adolescent Med, Div Pediat Nephrol, Med Ctr, Heidelberg, Germany., [Liebau, Max C.] Univ Hosp Cologne, Dept Pediat, Cologne, Germany., [Liebau, Max C.] Univ Hosp Cologne, Ctr Mol Med, Cologne, Germany., [Adamczyk, P.; Bjanid, O.; Brylka, A.; Morawiec-Knysak, A.; Szczepanska, M.] Dept Pediat, Zabrze, Poland., [Akinci, N.] Sariyer SISLI Hamidiye Etfal Res & Educ Hosp, Istanbul, Turkey., [Alpay, H.; Cicek, N.; Gokce, I] Marmara Univ, Sch Med, Div Pediat Nephrol, Istanbul, Turkey., [Ardelean, C.; Chirita, A.; Gafencu, M.; Stroescu, R.] Timisoara Children Hosp, Timisoara, Romania., [Ayasreh, N.; Furlano, M.; Torra, R.] Fundacio Puigvert, Barcelona, Spain., [Aydin, Z.; Bayrakci, U. S.] Ankara Univ Hlth Sci, Child Hlth & Dis, Ankara, Turkey., [Bael, A.; Docx, M.; Segers, N.] Koningin Paola Kinderziekenhuis Antwerpen, Antwerp, Belgium., [Baudouin, V; Cambier, A.; Couderc, A.; Dossier, C.; Kwon, V] Hop Robert Debre, AP HP, Paris, France., [Bensman, A.; Biebuyck, A.; Boyer, O.; Charbit, M.; Heidet, L.; Krid, S.; Krug, P.; Salomon, R.] Pediat Nephrol Necker Hosp, Paris, France., [Bialkevich, H.; Kazyra, I] 2nd City Childrens Clin Hosp, Natl Ctr Pediat Nephrol & RRT, Minsk, BELARUS., [Caliskan, S.; Ozcan, S.; Saygili, S. K.] Istanbul Cerrahpasa Fac Med, Istanbul, Turkey., [Camelio, A.; Nobili, F.; Vieux, R.] CHU Besancon, Besancon, France., [Carbone, V; Diomeda, F.; Torres, D.] Pediat Nephrol Unit Bari, Bari, Italy., [Chiodini, B.] HUDERF, Brussels, Belgium., [Collard, L.] CHR La Citadelle, Liege, Belgium., [Conceicao, M.; Teixeira, A.] Ctr Hosp Porto, Ctr Materno Infantil Norte, Porto, Portugal., [Constantinescu, I; Lungu, A. C.; Marin, A.; Negru, I; Stroescu, R.] Fundeni Clin Inst, Bucharest, Romania., [Crapella, B.; Giani, M.; Mastrangelo, A.; Montini, G.] Fdn IRCCS Ca Granda, Pediat Nephrol Dialysis & Transplant Unit, Milan, Italy., [Cvetkovic, M.; Gojkovic, I] Univ Childrens Hosp, Belgrade, Serbia., [Dima, B.] Clin Europe Hop St Elisabeth, Brussels, Belgium., [Dolan, N.] Our Ladys Childrens Hosp, Dublin, Ireland., [Drozdz, D.; Miklaszewska, M.; Zachwieja, K.] Jagiellonian Univ, Med Coll Cracow, Pediat Nephrol & Hypertens, Krakow, Poland., [Drube, J.; Pape, L.] Hannover Med Sch, Hannover, Germany., [Dunand, O.; Leroy, V] Pediat Nephrol Unit St Denis, St Denis, Reunion, France., [Dusan, P.; Spasojevic, B.; Stabouli, S.] Aristotle Univ Thessaloniki, Dept Pediat, Thessaloniki, Greece., [Eid, L. A.] Dubai Hosp, Pediat Nephrol Dept, Dubai, U Arab Emirates., [Emma, F.; Massella, L.] Bambino Gesu Pediat Hosp, Rome, Italy., [Espino Hernandez, M.] Hosp Infantil 12 Octubre Madrid, Madrid, Spain., [Fila, M.; Hemery, F.; Morin, D.] CHU Arnaud Villeneuve, Montpellier, France., [Ghuysen, Ms] CHU Liege, Liege, Belgium., [Giordano, M.] Pediat Nephrol Unit, Bari, Italy., [Girisgen, I; Yuksel, S.] Pamukkale Univ, Med Fac, Dept Pediat Nephrol, Denizli, Turkey., [Godefroid, N.; Ranguelov, N.] Clin Univ St Luc, Brussels, Belgium., [Godron-Dubrasquet, A.; Harambat, J.; Ilanas, B.] Bordeaux Univ Childrens Hosp, Bordeaux, France., [Gonzalez, E.] Childrens Univ Hosp, Geneva, Switzerland., [Groothoff, J. W.] Emma Childrens Hosp, Amsterdam, Netherlands., [Guarino, S.; La Manna, A.; Marzuillo, P.] Univ Campania Luigi Vanvitelli, Caserta, Italy., [Guffens, A.] CHC Clin Esperence, Montegnee, Belgium., [Hansen, P.] CHU Tivoli, La Louviere, Belgium., [Haumann, S.] Univ Klinikum Koln, Cologne, Germany., [He, G.] Foshan Women & Children Hosp, Foshan, Peoples R China., [Helmy, R.] Cairo Univ, Kasr Al Ainy Sch Med, Cairo, Egypt., [Hooman, N.; Otoukesh, H.] Iran Univ Med Sci, Aliasghar Clin Res Dev Unit, Tehran, Iran., [Janssens, P.] Univ Hosp Brussels, Brussels, Belgium., [Karamaria, S.; Prytula, A.; Raes, A.; Snauwaert, E.; Vande Walle, J.] UZ Gent, Ghent, Belgium., [Koenig, J.] Univ Hosp Muenster, Munster, Germany., [Litwin, M.; Obrycki, L.] Childrens Mem Hlth Inst, Warsaw, Poland., [Lombet, J.] CHR Citadelle, Liege, Belgium., [Longo, G.; Murer, L.] Hosp Univ Padova, Pediat Nephrol Dialysis & Transplant Unit, Padua, Italy., [Mallawaarachchi, A.] Garvan Inst, Darlinghurst, NSW, Australia., [Mallawaarachchi, A.] Royal Prince Alfred Hosp, Camperdown, NSW, Australia., [Mallawaarachchi, A.; McCarthy, H.; Quinlan, C.] KidGen, Sydney, NSW, Australia., [McCarthy, H.] Childrens Hosp Westmead, Westmead, NSW, Australia., [McCarthy, H.] Sydney Childrens Hosp, Sydney, NSW, Australia., [Papizh, S.; Prikhodina, L.] Pirogov Russian Nat Res Med Uni, Res & Clin Inst Pediat, Moscow, Russia., [Parvex, P.; Wilhelm-Bals, A.] Childrens Univ Hosp Geneva, Geneva, Switzerland., [Pawlak-Bratkowska, M.; Szczepanik, E.; Tkaczyk, M.] Polish Mothers Mem Hosp, Res Inst, Lodz, Poland., [Quinlan, C.] RCH Melbourne, Melbourne, Vic, Australia., [Ranchin, B.] Hop Femme Mere Enfant, Bron, France., [Ronit, C.] Ctr Hosp Luxembourg, Clin Pediat, Luxembourg, Luxembourg., [Schaefer, S.; Wuehl, E.] Ctr Pediat & Adolescent, Div Pediat Nephrol, Heidelberg, Germany., [Schreuder, M.] Radboudumc Amalia Childrens Hosp, Nijmegen, Netherlands., [Schurmans, T.; Tram, N.] CHU Charleroi, Charleroi, Belgium., [Seeman, T.] Charles Univ Prague, Prague, Czech Republic., [Seeman, T.] Motol Univ Hosp, Prague, Czech Republic., [Sinha, M.] Evelina London Childrens Hosp, London, England., [Taranta-Janusz, K.] Dept Pediat & Nephrol, Bialystok, Poland., [Thumfart, J.] Berlin Charite Univ Med, Berlin, Germany., [Utsch, B.] Herford Hosp, Dept Paediat, Herford, Germany., [Yildirim, Z. Y.] Istanbul Univ, Fac Med, Pediat Nephrol Dept, Istanbul, Turkey.
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- 2019
18. Assessment of Within- and Inter-Patient Variability of Uremic Toxin Concentrations in Children with CKD.
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Snauwaert E, De Buyser S, Desloovere A, Van Biesen W, Raes A, Glorieux G, Collard L, Van Hoeck K, Van Dyck M, Godefroid N, Vande Walle J, and Eloot S
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- Humans, Child, Male, Female, Adolescent, Child, Preschool, Longitudinal Studies, Renal Insufficiency, Chronic blood, Glomerular Filtration Rate, Uremic Toxins
- Abstract
To promote improved trial design in upcoming randomized clinical trials in childhood chronic kidney disease (CKD), insight in the within- and inter-patient variability of uremic toxins with its nutritional, treatment- and patient-related confounding factors is of utmost importance. In this study, the within- and inter-patient variability of a selection of uremic toxins in a longitudinal cohort of children diagnosed with CKD was assessed, using the intraclass correlation coefficient (ICC) and the within-patient coefficient of variation (CV). Subsequently, the contribution of anthropometry, estimated glomerular filtration rate (eGFR), dietary fiber and protein, and use of (prophylactic) antibiotics to uremic toxin variability was evaluated. Based on 403 observations from 62 children (median seven visits per patient; 9.4 ± 5.3 years; 68% males; eGFR 38.5 [23.1; 64.0] mL/min/1.73 m
2 ) collected over a maximum of 2 years, we found that the within-patient variability is high for especially protein-bound uremic toxins (PBUTs) (ICC < 0.7; within-patient CV 37-67%). Moreover, eGFR was identified as a predominant contributor to the within- and inter-patient variability for the majority of solutes, while the impact of the child's anthropometry, fiber and protein intake, and antibiotics on the variability of uremic toxin concentrations was limited. Based on these findings, we would recommend future intervention studies that attempt to decrease uremic toxin levels to select a (non-dialysis) CKD study population with a narrow eGFR range. As the expected effect of the selected intervention should exceed the inter-patient variability of the selected uremic toxins, a narrow eGFR range might aid in improving the trial design.- Published
- 2024
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19. Indoxyl Sulfate Contributes to Impaired Height Velocity in (Pre)School Children.
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Snauwaert E, De Buyser S, Van Biesen W, Raes A, Glorieux G, Collard L, Van Hoeck K, Van Dyck M, Godefroid N, Walle JV, and Eloot S
- Abstract
Introduction: Growth failure is considered the most important clinical outcome parameter in childhood chronic kidney disease (CKD). Central to the pathophysiology of growth failure is the presence of a chronic proinflammatory state, presumed to be partly driven by the accumulation of uremic toxins. In this study, we assessed the association between uremic toxin concentrations and height velocity in a longitudinal multicentric prospective pediatric CKD cohort of (pre)school-aged children and children during pubertal stages., Methods: In a prospective, multicentric observational study, a selection of uremic toxin levels of children (aged 0-18 years) with CKD stage 1 to 5D was assessed every 3 months (maximum 2 years) along with clinical growth parameters. Linear mixed models with a random slope for age and a random intercept for child were fitted for height (in cm and SD scores [SDS]). A piecewise linear association between age and height was assumed., Results: Data analysis included data from 560 visits of 81 children (median age 9.4 years; 2/3 male). In (pre)school aged children (aged 2-12 years), a 10% increase in concurrent indoxyl sulfate (IxS, total) concentration resulted in an estimated mean height velocity decrease of 0.002 SDS/yr ( P < 0.05), given that CKD stage, growth hormone (GH), bicarbonate concentration, and dietary protein intake were held constant. No significant association with height velocity was found in children during pubertal stages (aged >12 years)., Conclusion: The present study demonstrated that, especially IxS contributes to a lower height velocity in (pre)school children, whereas we could not find a role for uremic toxins with height velocity during pubertal stages., (© 2024 International Society of Nephrology. Published by Elsevier Inc.)
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- 2024
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20. Monogenic Kidney Diseases in Kidney Transplantation.
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Gillion V, Devresse A, Olinger E, Dahlqvist G, Demoulin N, Godefroid N, Claes K, Devuyst O, and Kanaan N
- Abstract
Monogenic kidney diseases are involved in up to 15% of end-stage kidney diseases (ESKDs) in adults, and in 70 % of pediatric patients. When these disorders lead to kidney failure (KF), kidney transplantation (KT) is the preferred mode of replacement therapy. KT requires specific considerations depending on the nature of the genetic disorder, the potential oncological risk, the risk of recurrence in the graft, the possibility of specific complications of immunosuppression, and the issue of living donation. The availability of genetic testing should play an increasing role in the evaluation of patients or related living donor candidates before transplantation, relevant for the pretransplantation and posttransplantation management., (© 2023 International Society of Nephrology. Published by Elsevier Inc.)
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- 2023
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21. Severe parental phenotype associates with hypertension in children with ADPKD.
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Demoulin N, Van Regemorter E, Dahan K, Hougardy C, Morelle J, Gillion V, Ranguelov N, and Godefroid N
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- Male, Humans, Child, Female, Retrospective Studies, Phenotype, Parents, Polycystic Kidney, Autosomal Dominant complications, Polycystic Kidney, Autosomal Dominant genetics, Hypertension epidemiology, Hypertension genetics, Hypertension diagnosis
- Abstract
Background: Early detection of hypertension in children with autosomal polycystic kidney disease (ADPKD) may be beneficial, but screening children at risk of ADPKD remains controversial. We investigated determinants of hypertension in children with ADPKD to help identify a subgroup of children at risk of ADPKD for whom screening for the disease and/or its complications would be more relevant., Methods: In a retrospective study including consecutive children with ADPKD aged 5-18 years and followed at Saint-Luc Hospital Brussels between 2006 and 2020, we investigated the potential association between genotype, clinical characteristics and parental phenotype, and presence of hypertension. Hypertension was defined as blood pressure > P95 during 24-h ambulatory monitoring or anti-hypertensive therapy use. Parental phenotype was considered severe based on age at kidney failure, Mayo Clinic Imaging Classification and rate of eGFR decline., Results: The study enrolled 55 children with ADPKD (mean age 9.9 ± 2.2 years, 45% male), including 44 with a PKD1 mutation and 5 with no mutation identified. Nine (16%) children had hypertension. Hypertension in children was associated with parental phenotype severity (8/27 (30%) children with severe parental phenotype vs. 1/23 (4%) children with non-severe parental phenotype (p = 0.03)) and height-adjusted bilateral nephromegaly (6/9 (67%) children with bilateral nephromegaly vs. 3/44 (7%) children without bilateral nephromegaly (p < 0.001))., Conclusions: Severe parental phenotype is associated with higher prevalence of hypertension in children with ADPKD. Hence, children of parents with severe ADPKD phenotype may be those who will most benefit from screening of the disease and/or yearly BP measures. A higher resolution version of the Graphical abstract is available as Supplementary information., (© 2023. The Author(s), under exclusive licence to International Pediatric Nephrology Association.)
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- 2023
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22. Illness-related parental stress and quality of life in children with kidney diseases.
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De Bruyne E, Willem L, Van Hoeck K, Reynaert S, Vankerckhove S, Adams B, Leroi S, Collard L, Michaux A, Godefroid N, Mekahli D, Knops N, Eloot S, Raes A, Walle JV, Van Hoecke E, Snauwaert E, and Levtchenko E
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- Child, Humans, Cross-Sectional Studies, Proxy, Parents, Surveys and Questionnaires, Quality of Life, Kidney Diseases therapy
- Abstract
Background: This cross-sectional study investigated quality of life (QoL) and illness-related parental stress in children with kidney diseases by (1) comparing mean levels of these two variables between several kidney disease categories; (2) exploring correlations between QoL and parental stress; and (3) describing which disease category reports lowest QoL and highest parental stress., Methods: We included 295 patients with a kidney disease (0-18 years) and their parents, followed at 6 reference centers for pediatric nephrology. Children's QoL was assessed by the PedsQL™ 4.0 Generic Core Scales, and illness-related stress by the Pediatric Inventory for Parents. All patients were divided into 5 kidney disease categories according to the multidisciplinary care program criteria prescribed by the Belgian authorities: (1) structural kidney diseases, (2) tubulopathies and metabolic diseases, (3) nephrotic syndrome, (4) acquired diseases with proteinuria and hypertension, and (5) kidney transplantation., Results: Child self-reports showed no differences in QoL between kidney disease categories, in contrast to parent proxy reports. Parents of transplant patients reported lower QoL in their child and more parental stress compared with the 4 non-transplant categories. QoL and parental stress were negatively correlated. Lowest QoL and highest parental stress scores were mainly found in transplant patients., Conclusions: This study showed lower QoL and higher parental stress in pediatric transplant patients compared with non-transplants, based on parent reports. Higher parental stress is associated with worse QoL in the child. These results highlight the importance of multidisciplinary care for children with kidney diseases, with special attention to transplant patients and their parents. A higher resolution version of the Graphical abstract is available as Supplementary information., (© 2023. The Author(s), under exclusive licence to International Pediatric Nephrology Association.)
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- 2023
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23. Epidemiology, Outcomes, and Complement Gene Variants in Secondary Thrombotic Microangiopathies.
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Werion A, Storms P, Zizi Y, Beguin C, Bernards J, Cambier JF, Dahan K, Dierickx D, Godefroid N, Hilbert P, Lambert C, Levtchenko E, Meyskens T, Poiré X, van den Heuvel L, Claes KJ, and Morelle J
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- Humans, Female, Male, Adult, Middle Aged, Complement System Proteins genetics, Young Adult, Atypical Hemolytic Uremic Syndrome genetics, Atypical Hemolytic Uremic Syndrome epidemiology, Incidence, Adolescent, Aged, Genetic Variation, Retrospective Studies, Thrombotic Microangiopathies genetics, Thrombotic Microangiopathies epidemiology
- Abstract
Background: The identification of complement defects as major drivers of primary atypical hemolytic uremic syndrome (HUS) has transformed the landscape of thrombotic microangiopathies (TMAs), leading to the development of targeted therapies and better patient outcomes. By contrast, little is known about the presentation, genetics, and outcomes of TMA associated with specific diseases or conditions, also referred to as secondary TMA., Methods: In this study, we assessed the relative incidence, clinical and genetic spectra, and long-term outcomes of secondary TMA versus other TMAs in consecutive patients hospitalized with a first episode of TMA from 2009 to 2019 at two European reference centers., Results: During the study period, 336 patients were hospitalized with a first episode of TMA. Etiologies included atypical HUS in 49 patients (15%), thrombotic thrombocytopenic purpura (TTP) in 29 (9%), shigatoxin-associated HUS in 70 (21%), and secondary TMA in 188 (56%). The main causes of secondary TMA were hematopoietic stem-cell transplantation ( n =56, 30%), solid-organ transplantation ( n =44, 23%), and malignant hypertension ( n =25, 13%). Rare variants in complement genes were identified in 32 of 49 patients (65%) with atypical HUS and eight of 64 patients (13%) with secondary TMA; pathogenic or likely pathogenic variants were found in 24 of 49 (49%) and two of 64 (3%) of them, respectively ( P < 0.001). After a median follow-up of 1157 days, death or kidney failure occurred in 14 (29%), eight (28%), five (7%), and 121 (64%) patients with atypical HUS, TTP, shigatoxin-associated HUS, and secondary TMA, respectively. Unadjusted and adjusted Cox regressions showed that patients with secondary TMA had the highest risk of death or kidney failure (unadjusted hazard ratio [HR], 3.35; 95% confidence interval [CI], 1.85 to 6.07; P < 0.001; adjusted HR, 4.11; 95% CI, 2.00 to 8.46; P < 0.001; considering atypical HUS as reference)., Conclusions: Secondary TMAs represent the main cause of TMA and are independently associated with a high risk of death and progression to kidney failure., (Copyright © 2023 by the American Society of Nephrology.)
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- 2023
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24. Lessons for the clinical nephrologist: lumasiran as the future cornerstone treatment for patients with primary hyperoxaluria type 1?
- Author
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Gillion V, Dahan K, Scohy A, Devresse A, and Godefroid N
- Subjects
- Humans, Nephrologists, Hyperoxaluria, Primary diagnosis, Hyperoxaluria, Primary therapy, Hyperoxaluria
- Published
- 2023
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25. Characterization, evolution and risk factors of diabetes and prediabetes in a pediatric cohort of renal and liver transplant recipients.
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Welsch S, Mailleux V, le Hardy de Beaulieu P, Ranguelov N, Godefroid N, Robert A, Stephenne X, Scheers I, Reding R, Sokal EM, and Lysy PA
- Abstract
Background: Hyperglycemia (HG) and prediabetes are rarely sought in pediatric liver (LT) and renal (RT) transplantation, yet their presence indicates a high risk of diabetes and cardiovascular disease. The objectives of our DIABGRAFT study were to retrospectively (rDIABGRAFT) and longitudinally (pDIABGRAFT) characterize HG and (pre)diabetes in a cohort of children with LT or/and RT., Methods: We retrospectively analyzed risk factors of HG from 195 children with LT from 2012 to 2019 and twenty children with RT from 2005 to 2019 at Cliniques universitaires Saint-Luc. In addition, we prospectively followed four LT and four RT children to evaluate the evolution of their glucose metabolism., Results: Our rDIABGRAFT study showed that 25% and 35% of LT and RT children respectively presented transient HG and 20% of RT developed diabetes. The occurrence of HG was associated with the use of glucocorticoids and with acute events as graft rejection and infection. In our pDIABGRAFT cohort, biological markers of diabetes were in the normal range for HbA
1C , fasting glucose and insulin levels. However, oral glucose tolerance test and glucose sensors showed insulin resistance, impaired glucose tolerance and HG in the post-prandial afternoon period., Conclusion: Our study shows that children with LT and RT were more at risk of developing HG when glucocorticoids were required and that HbA1C and fasting glucose lack sensitivity for early detection of glucose intolerance. Also, measurement of glycemia immediately after the transplantation and in postprandial period is key to detect dysglycemia since insulin resistance prevailed in our cohort., Clinicaltrialsgov Id: NCT05464043., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2023 Welsch, Mailleux, le Hardy de Beaulieu, Ranguelov, Godefroid, Robert, Stephenne, Scheers, Reding, Sokal and Lysy.)- Published
- 2023
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26. 18-Fluorodeoxyglucose positron emission computed tomography for systemic oxalosis in primary hyperoxaluria type 1.
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Devresse A, Lhommel R, Godefroid N, Goffin E, and Kanaan N
- Subjects
- Electrons, Female, Fluorodeoxyglucose F18, Humans, Male, Tomography, Emission-Computed, Hyperoxaluria, Hyperoxaluria, Primary diagnostic imaging
- Published
- 2022
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27. mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
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Schlingmann KP, Jouret F, Shen K, Nigam A, Arjona FJ, Dafinger C, Houillier P, Jones DP, Kleinerüschkamp F, Oh J, Godefroid N, Eltan M, Güran T, Burtey S, Parotte MC, König J, Braun A, Bos C, Ibars Serra M, Rehmann H, Zwartkruis FJT, Renkema KY, Klingel K, Schulze-Bahr E, Schermer B, Bergmann C, Altmüller J, Thiele H, Beck BB, Dahan K, Sabatini D, Liebau MC, Vargas-Poussou R, Knoers NVAM, Konrad M, and de Baaij JHF
- Subjects
- Cardiomyopathy, Dilated metabolism, Female, HEK293 Cells, Humans, Hypercalciuria metabolism, Kidney Diseases metabolism, Kidney Tubules, Distal metabolism, Male, Models, Molecular, Natriuresis genetics, Nephrocalcinosis metabolism, Pedigree, Protein Conformation, Renal Tubular Transport, Inborn Errors metabolism, Seizures genetics, Seizures metabolism, Signal Transduction, Exome Sequencing, Whole Genome Sequencing, Cardiomyopathy, Dilated genetics, Hypercalciuria genetics, Kidney Diseases genetics, Monomeric GTP-Binding Proteins genetics, Mutation, Missense, Nephrocalcinosis genetics, Renal Tubular Transport, Inborn Errors genetics, TOR Serine-Threonine Kinases metabolism
- Abstract
Background: Over the last decade, advances in genetic techniques have resulted in the identification of rare hereditary disorders of renal magnesium and salt handling. Nevertheless, approximately 20% of all patients with tubulopathy lack a genetic diagnosis., Methods: We performed whole-exome and -genome sequencing of a patient cohort with a novel, inherited, salt-losing tubulopathy; hypomagnesemia; and dilated cardiomyopathy. We also conducted subsequent in vitro functional analyses of identified variants of RRAGD , a gene that encodes a small Rag guanosine triphosphatase (GTPase)., Results: In eight children from unrelated families with a tubulopathy characterized by hypomagnesemia, hypokalemia, salt wasting, and nephrocalcinosis, we identified heterozygous missense variants in RRAGD that mostly occurred de novo . Six of these patients also had dilated cardiomyopathy and three underwent heart transplantation. We identified a heterozygous variant in RRAGD that segregated with the phenotype in eight members of a large family with similar kidney manifestations. The GTPase RagD, encoded by RRAGD , plays a role in mediating amino acid signaling to the mechanistic target of rapamycin complex 1 (mTORC1). RagD expression along the mammalian nephron included the thick ascending limb and the distal convoluted tubule. The identified RRAGD variants were shown to induce a constitutive activation of mTOR signaling in vitro ., Conclusions: Our findings establish a novel disease, which we call autosomal dominant kidney hypomagnesemia (ADKH-RRAGD), that combines an electrolyte-losing tubulopathy and dilated cardiomyopathy. The condition is caused by variants in the RRAGD gene, which encodes Rag GTPase D; these variants lead to an activation of mTOR signaling, suggesting a critical role of Rag GTPase D for renal electrolyte handling and cardiac function., (Copyright © 2021 by the American Society of Nephrology.)
- Published
- 2021
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28. Epstein-Barr Virus-associated Pulmonary Tumor: A Pediatric Case and Discussion of the Literature.
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Lecoq N, Godefroid N, Berardis S, Froidure A, Poncelet A, and Goubau C
- Subjects
- Child, Preschool, Epstein-Barr Virus Infections microbiology, Humans, Lung Neoplasms epidemiology, Lung Neoplasms microbiology, Male, Prognosis, Epstein-Barr Virus Infections complications, Herpesvirus 4, Human isolation & purification, Lung Neoplasms pathology
- Abstract
Epstein-Barr virus-associated smooth pulmonary tumor is a rare condition that mostly affects immunosuppressed patients. This case describes a young boy with a history of kidney transplantation who presented recurrent pneumonia. Multiple endobronchial soft tissue tumors affecting both right and left bronchial tree were found and partially removed by bronchoscopy. Immunohistologic analysis demonstrated Epstein-Barr virus-associated smooth pulmonary tumor. Immunosuppressive therapy was changed from tacrolimus to sirolimus. A few months later, new right upper lobe and inferior left lobe tumors were found. Recurrent left lower lobe pneumonia prompted lobectomy. In the present case, complete resection and change of immunosuppressive treatment were effective., Competing Interests: The authors declare no conflict of interest., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)
- Published
- 2021
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29. Low rates of humoral response to BNT162b2 SARS-CoV-2 vaccination in patients with immune-mediated kidney diseases treated with rituximab.
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Demoulin N, Scohy A, Gillion V, Godefroid N, Jadoul M, and Morelle J
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- 2021
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30. Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
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Schlingmann KP, Renigunta A, Hoorn EJ, Forst AL, Renigunta V, Atanasov V, Mahendran S, Barakat TS, Gillion V, Godefroid N, Brooks AS, Lugtenberg D, Lake J, Debaix H, Rudin C, Knebelmann B, Tellier S, Rousset-Rouvière C, Viering D, de Baaij JHF, Weber S, Palygin O, Staruschenko A, Kleta R, Houillier P, Bockenhauer D, Devuyst O, Vargas-Poussou R, Warth R, Zdebik AA, and Konrad M
- Subjects
- Adolescent, Adult, Alleles, Animals, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Kidney Tubules, Loss of Function Mutation, Male, Mice, Nephrons metabolism, Oocytes, Pedigree, Phenotype, RNA, Messenger metabolism, Renal Reabsorption genetics, Salts metabolism, Exome Sequencing, Xenopus laevis, Young Adult, Acid-Base Imbalance genetics, Hearing Loss, Sensorineural genetics, Hypokalemia genetics, Kidney Diseases genetics, Potassium Channels, Inwardly Rectifying genetics
- Abstract
Background: The transepithelial transport of electrolytes, solutes, and water in the kidney is a well-orchestrated process involving numerous membrane transport systems. Basolateral potassium channels in tubular cells not only mediate potassium recycling for proper Na
+ ,K+ -ATPase function but are also involved in potassium and pH sensing. Genetic defects in KCNJ10 cause EAST/SeSAME syndrome, characterized by renal salt wasting with hypokalemic alkalosis associated with epilepsy, ataxia, and sensorineural deafness., Methods: A candidate gene approach and whole-exome sequencing determined the underlying genetic defect in eight patients with a novel disease phenotype comprising a hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeostasis, and sensorineural deafness. Electrophysiologic studies and surface expression experiments investigated the functional consequences of newly identified gene variants., Results: We identified mutations in the KCNJ16 gene encoding KCNJ16, which along with KCNJ15 and KCNJ10, constitutes the major basolateral potassium channel of the proximal and distal tubules, respectively. Coexpression of mutant KCNJ16 together with KCNJ15 or KCNJ10 in Xenopus oocytes significantly reduced currents., Conclusions: Biallelic variants in KCNJ16 were identified in patients with a novel disease phenotype comprising a variable proximal and distal tubulopathy associated with deafness. Variants affect the function of heteromeric potassium channels, disturbing proximal tubular bicarbonate handling as well as distal tubular salt reabsorption., (Copyright © 2021 by the American Society of Nephrology.)- Published
- 2021
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31. Dietary fibre intake is low in paediatric chronic kidney disease patients but its impact on levels of gut-derived uraemic toxins remains uncertain.
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El Amouri A, Snauwaert E, Foulon A, Vande Moortel C, Van Dyck M, Van Hoeck K, Godefroid N, Glorieux G, Van Biesen W, Vande Walle J, Raes A, and Eloot S
- Subjects
- Adolescent, Child, Child, Preschool, Cross-Sectional Studies, Dietary Fiber, Humans, Toxins, Biological, Uremic Toxins, Renal Insufficiency, Chronic, Uremia
- Abstract
Background: Chronic kidney disease (CKD) in children is a pro-inflammatory condition leading to a high morbidity and mortality. Accumulation of organic metabolic waste products, coined as uraemic toxins, parallels kidney function decline. Several of these uraemic toxins are protein-bound (PBUT) and gut-derived. Gut dysbiosis is a hallmark of CKD, resulting in a state of increased proteolytic fermentation that might be counteracted by dietary fibre. Data on fibre intake in children with CKD are lacking. We aimed to assess dietary fibre intake in a paediatric CKD cohort and define its relationship with PBUT concentrations., Methods: In this multi-centre, cross-sectional observational study, 61 non-dialysis CKD patients (9 ± 5 years) were included. Dietary fibre intake was assessed through the use of 24-h recalls or 3-day food records and coupled to total and free levels of 4 PBUTs (indoxyl sulfate (IxS), p-cresyl sulfate (pCS), p-cresyl glucuronide (pCG) and indole acetic acid (IAA)., Results: In general, fibre intake was low, especially in advanced CKD: 10 ± 6 g/day/BSA in CKD 4-5 versus 14 ± 7 in CKD 1-3 (p = 0.017). Lower concentrations of both total (p = 0.036) and free (p = 0.036) pCG were observed in the group with highest fibre intake, independent of kidney function., Conclusions: Fibre intake in paediatric CKD is low and is even worse in advanced CKD stages. Current dietary fibre recommendations for healthy children are not being achieved. Dietary management of CKD is complex in which too restrictive diets carry the risk of nutritional deficiencies. The relation of fibre intake with PBUTs remains unclear and needs further investigation. Graphical abstract.
- Published
- 2021
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32. Corrigendum: Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
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Laurent MR, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, Bravenboer B, Velkeniers B, Lammens J, Harvengt P, Cavalier E, Kaux JF, Lombet J, De Waele K, Verroken C, van Hoeck K, Mortier GR, Levtchenko E, and Vande Walle J
- Abstract
[This corrects the article DOI: 10.3389/fendo.2021.641543.]., (Copyright © 2021 Laurent, De Schepper, Trouet, Godefroid, Boros, Heinrichs, Bravenboer, Velkeniers, Lammens, Harvengt, Cavalier, Kaux, Lombet, De Waele, Verroken, van Hoeck, Mortier, Levtchenko and Vande Walle.)
- Published
- 2021
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33. Liver Transplantation in Primary Hyperoxaluria Type 1: We Have to Find an Alternative!
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Devresse A, Godefroid N, Anthonissen B, Labriola L, de Magnée C, Reding R, Sokal E, Stephenne X, Gillion V, and Kanaan N
- Subjects
- Adolescent, Humans, Hyperoxaluria, Primary diagnosis, Hyperoxaluria, Primary genetics, Hyperoxaluria, Primary physiopathology, Male, Postoperative Complications therapy, RNA, Small Interfering therapeutic use, RNAi Therapeutics, Risk Factors, Treatment Outcome, Hyperoxaluria, Primary surgery, Liver Transplantation adverse effects, Postoperative Complications etiology
- Abstract
Competing Interests: A.D. is PI for Alnylam. L.L. reports lecture fees from Amgen, lecture fees from Fresenius, and travel support from Vifor, outside the submitted work, in the last 36 months. The other authors declare no conflicts of interest.
- Published
- 2021
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34. Dietary Fibre Intake Is Associated with Serum Levels of Uraemic Toxins in Children with Chronic Kidney Disease.
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El Amouri A, Snauwaert E, Foulon A, Vande Moortel C, Van Dyck M, Van Hoeck K, Godefroid N, Glorieux G, Van Biesen W, Vande Walle J, Raes A, and Eloot S
- Subjects
- Adolescent, Age Factors, Belgium, Child, Child, Preschool, Dysbiosis, Female, Humans, Infant, Longitudinal Studies, Male, Prognosis, Prospective Studies, Renal Insufficiency, Chronic blood, Renal Insufficiency, Chronic diagnosis, Renal Insufficiency, Chronic microbiology, Uremia blood, Uremia diagnosis, Uremia microbiology, Bacteria metabolism, Dietary Fiber administration & dosage, Gastrointestinal Microbiome, Intestines microbiology, Renal Insufficiency, Chronic diet therapy, Toxins, Biological blood, Uremia diet therapy
- Abstract
Imbalanced colonic microbial metabolism plays a pivotal role in generating protein-bound uraemic toxins (PBUTs), which accumulate with deteriorating kidney function and contribute to the uraemic burden of children with chronic kidney disease (CKD). Dietary choices impact the gut microbiome and metabolism. The aim of this study was to investigate the relation between dietary fibre and gut-derived PBUTs in paediatric CKD. Sixty-one (44 male) CKD children (9 ± 5 years) were prospectively followed for two years. Dietary fibre intake was evaluated by either 24-h recalls (73%) or 3-day food records (27%) at the same time of blood sampling for assessment of total and free serum levels of different PBUTs using liquid chromatography. We used linear mixed models to assess associations between fibre intake and PBUT levels. We found an inverse association between increase in fibre consumption (g/day) and serum concentrations of free indoxyl sulfate (-3.1% (-5.9%; -0.3%) ( p = 0.035)), free p-cresyl sulfate (-2.5% (-4.7%; -0.3%) ( p = 0.034)), total indole acetic acid (IAA) (-1.6% (-3.0%; -0.3%) ( p = 0.020)), free IAA (-6.6% (-9.3%; -3.7%) ( p < 0.001)), total serum p-cresyl glucuronide (pCG) (-3.0% (-5.6%; -0.5%) ( p = 0.021)) and free pCG levels (-3.3% (-5.8%; -0.8%) ( p = 0.010)). The observed associations between dietary fibre intake and the investigated PBUTs highlight potential benefits of fibre intake for the paediatric CKD population. The present observational findings should inform and guide adaptations of dietary prescriptions in children with CKD.
- Published
- 2021
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35. Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
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Laurent MR, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, Bravenboer B, Velkeniers B, Lammens J, Harvengt P, Cavalier E, Kaux JF, Lombet J, De Waele K, Verroken C, van Hoeck K, Mortier GR, Levtchenko E, and Vande Walle J
- Subjects
- Alkaline Phosphatase metabolism, Antibodies, Monoclonal, Humanized administration & dosage, Belgium, Consensus, Familial Hypophosphatemic Rickets complications, Familial Hypophosphatemic Rickets genetics, Humans, Hypophosphatemia complications, Hypophosphatemia genetics, Interdisciplinary Communication, Osteomalacia complications, Osteomalacia genetics, Severity of Illness Index, Treatment Outcome, Vitamin D, Familial Hypophosphatemic Rickets diagnosis, Familial Hypophosphatemic Rickets therapy, Fibroblast Growth Factor-23 metabolism, Mutation, PHEX Phosphate Regulating Neutral Endopeptidase genetics, Societies, Medical organization & administration
- Abstract
X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, mutations in the PHEX gene lead to elevated levels of the hormone fibroblast growth factor 23 (FGF23), resulting in renal phosphate wasting and impaired skeletal and dental mineralization. Recently, international guidelines for the diagnosis and treatment of this condition have been published. However, more specific recommendations are needed to provide guidance at the national level, considering resource availability and health economic aspects. A national multidisciplinary group of Belgian experts convened to discuss translation of international best available evidence into locally feasible consensus recommendations. Patients with XLH may present to a wide array of primary, secondary and tertiary care physicians, among whom awareness of the disease should be raised. XLH has a very broad differential-diagnosis for which clinical features, biochemical and genetic testing in centers of expertise are recommended. Optimal care requires a multidisciplinary approach, guided by an expert in metabolic bone diseases and involving (according to the individual patient's needs) pediatric and adult medical specialties and paramedical caregivers, including but not limited to general practitioners, dentists, radiologists and orthopedic surgeons. In children with severe or refractory symptoms, FGF23 inhibition using burosumab may provide superior outcomes compared to conventional medical therapy with phosphate supplements and active vitamin D analogues. Burosumab has also demonstrated promising results in adults on certain clinical outcomes such as pseudofractures. In summary, this work outlines recommendations for clinicians and policymakers, with a vision for improving the diagnostic and therapeutic landscape for XLH patients in Belgium., Competing Interests: ML has received lecture and consultancy fees from Alexion, Amgen, Kyowa Kirin, Menarini, Sandoz, Takeda, UCB and Will-Pharma. JS has received lecture, consultancy fees, and conference support from Kyowa Kirin, Alexion, Eli-Lily, Ferring, Ipsen, Menarini, Novo Nordisk, Pfizer, Sandoz, and Siemens Healthcare. DT has received conference support from Novo Nordisk. NG, JLa, and KH have received consultancy fees from Kyowa Kirin. EB has received conference support from Novo Nordisk and Pfizer. CH has received consultancy fees and conference support from Kyowa Kirin, Novo Nordisk, and Ferring. EC has received consultancy fees from bioMérieux, Diasorin, Fujirebio, IDS, and Menarini. PH is an employee of GlaxoSmithKline but participates in his own capacity. J-FK has received consultancy fees and conference support from Heel Belgium, Sanofi, and TRB Chemedica. KW has received conference support from Alexion, Ferring, Kyowa Kirin and Novo Nordisk. CV has received conference support from Boehringer Ingelheim. GM has received consultancy fees from Alexion, Biomarin, Kyowa Kirin, and Pfizer. EL has received consultancy fees and travel support from Kyowa Kirin, Chiesi, and Recordati. JV has received conference support and consultancy fees from Alexion, Bellco, Ferring, Medtronic, and Kyowa Kirin. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Laurent, De Schepper, Trouet, Godefroid, Boros, Heinrichs, Bravenboer, Velkeniers, Lammens, Harvengt, Cavalier, Kaux, Lombet, De Waele, Verroken, van Hoeck, Mortier, Levtchenko and Vande Walle.)
- Published
- 2021
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36. Transplantation for Primary Hyperoxaluria Type 1: Designing New Strategies in the Era of Promising Therapeutic Perspectives.
- Author
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Devresse A, Cochat P, Godefroid N, and Kanaan N
- Abstract
Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disease caused by the functional defect of alanine-glyoxylate aminotransferase that results in the overproduction of oxalate. It can be devastating especially for kidneys, leading to end-stage renal disease (ESRD) during the first 2 to 3 decades of life in most patients. Consequently, many PH1 patients need kidney transplantation. However, because PH1 is caused by a liver enzyme deficiency, the only cure of the metabolic defect is liver transplantation. Thus, current transplant strategies to treat PH1 patients with ESRD include dual liver-kidney transplantation. However, the morbidity and mortality associated with liver transplantation make these strategies far from optimal. Fortunately, a therapeutic revolution is looming. Indeed, innovative drugs are being currently tested in clinical trials, and preliminary data show impressive efficacy to reduce the hepatic overproduction of oxalate. Hopefully, with these therapies, liver transplantation will no longer be necessary. However, some patients with progressing renal disease or those who will be diagnosed with PH1 at an advanced stage of chronic kidney disease will ultimately need kidney transplantation. Here we review the current knowledge on this subject and discuss the future of kidney transplant management in PH1 patients in the era of novel therapies., (© 2020 International Society of Nephrology. Published by Elsevier Inc.)
- Published
- 2020
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37. vWFpp/ADAMTS13 ratio is a useful marker of postliver transplantation thrombotic microangiopathy: A pediatric case report.
- Author
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Duquenne L, Balbeur S, Everard E, Reding R, Eeckhoudt S, Brichard B, Godefroid N, Derycke E, Komuta M, Scheers I, Smets F, Sokal E, and Stéphenne X
- Abstract
vWFpp/ADAMTS13 ratio should be further studied as a useful marker for diagnosis of thrombotic microangiopathy postliver transplantation. Immunosuppressive regimen modification and plasma supplementation can lead to recovery., Competing Interests: None., (© 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)
- Published
- 2019
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38. Typical or Atypical Hemolytic Uremic Syndrome and the Use of Eculizumab: 4 Illustrative Cases.
- Author
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de Ville de Goyet M, Detaille T, and Godefroid N
- Subjects
- Atypical Hemolytic Uremic Syndrome diagnosis, Child, Preschool, Female, Hemolytic-Uremic Syndrome diagnosis, Humans, Infant, Male, Antibodies, Monoclonal, Humanized therapeutic use, Atypical Hemolytic Uremic Syndrome drug therapy, Complement Inactivating Agents therapeutic use, Hemolytic-Uremic Syndrome drug therapy
- Abstract
Typical hemolytic uremic syndrome (HUS) in children is caused mostly by Escherichia coli 0157:H7 in our country. Atypical HUS (aHUS) causes include Streptococcus pneumoniae, methyl malonic aciduria, deficiency of ADAMST 13, and genetic or acquired disorder of the complement. Treatment of HUS relies on supportive measures while treatment of aHUS includes plasmapheresis and specific treatments. Recently, eculizumab has been proposed for the treatment of aHUS and many clinicians now believe that eculizumab should be the first-line standard of care. The purpose of this article is to illustrate the difficulties in the diagnostic process of HUS and therefore the subsequent problem to promptly choose the appropriate treatment. To date, workup of HUS continues to take many days leaving the clinicians with a choice between several therapeutic options. With the emergence of eculizumab, it becomes crucial to find faster diagnostic tools and to adapt HUS treatment protocols. We reported here clinical cases where eculizumab use was probably not appropriate once the correct diagnosis of typical HUS was made and cases where it would have been useful because of the late diagnosis of aHUS.
- Published
- 2019
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39. Uremic Toxin Concentrations are Related to Residual Kidney Function in the Pediatric Hemodialysis Population.
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Snauwaert E, Holvoet E, Van Biesen W, Raes A, Glorieux G, Vande Walle J, Roels S, Vanholder R, Askiti V, Azukaitis K, Bayazit A, Canpolat N, Fischbach M, Godefroid N, Krid S, Litwin M, Obrycki L, Paglialonga F, Ranchin B, Samaille C, Schaefer F, Schmitt CP, Spasojevic B, Stefanidis CJ, Van Dyck M, Van Hoeck K, Collard L, Eloot S, and Shroff R
- Subjects
- Adolescent, Child, Child, Preschool, Female, Humans, Kidney metabolism, Male, Protein Binding, Renal Insufficiency, Chronic metabolism, Toxins, Biological metabolism, Kidney physiopathology, Renal Dialysis, Renal Insufficiency, Chronic physiopathology, Toxins, Biological blood, Uremia
- Abstract
Protein-bound uremic toxins (PBUTs) play a role in the multisystem disease that children on hemodialysis (HD) are facing, but little is known about their levels and protein binding (%PB). In this study, we evaluated the levels and %PB of six PBUTs cross-sectionally in a large pediatric HD cohort ( n = 170) by comparing these with healthy and non-dialysis chronic kidney disease (CKD) stage 4-5 ( n = 24) children. In parallel β2-microglobulin (β2M) and uric acid (UA) were evaluated. We then explored the impact of age and residual kidney function on uremic toxin levels and %PB using analysis of covariance and Spearman correlation coefficients ( r
s ). We found higher levels of β2M, p-cresyl glucuronide (pCG), hippuric acid (HA), indole acetic acid (IAA), and indoxyl sulfate (IxS) in the HD compared to the CKD4-5 group. In the HD group, a positive correlation between age and pCG, HA, IxS, and pCS levels was shown. Residual urine volume was negatively correlated with levels of β2M, pCG, HA, IAA, IxS, and CMPF ( rs -0.2 to -0.5). In addition, we found overall lower %PB of PBUTs in HD versus the CKD4-5 group, and showed an age-dependent increase in %PB of IAA, IxS, and pCS. Furhtermore, residual kidney function was overall positively correlated with %PB of PBUTs. In conclusion, residual kidney function and age contribute to PBUT levels and %PB in the pediatric HD population.- Published
- 2019
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40. Prevalence of Hypertension in Children with Early-Stage ADPKD.
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Massella L, Mekahli D, Paripović D, Prikhodina L, Godefroid N, Niemirska A, Ağbaş A, Kalicka K, Jankauskiene A, Mizerska-Wasiak M, Afonso AC, Salomon R, Deschênes G, Ariceta G, Özçakar ZB, Teixeira A, Duzova A, Harambat J, Seeman T, Hrčková G, Lungu AC, Papizh S, Peco-Antic A, De Rechter S, Giordano U, Kirchner M, Lutz T, Schaefer F, Devuyst O, Wühl E, and Emma F
- Subjects
- Adolescent, Blood Pressure Monitoring, Ambulatory, Child, Female, Humans, Logistic Models, Male, Prevalence, Retrospective Studies, Risk Factors, Hypertension epidemiology, Polycystic Kidney, Autosomal Dominant complications
- Abstract
Background and Objectives: Autosomal dominant polycystic kidney disease is the most common inheritable kidney disease, frequently thought to become symptomatic in adulthood. However, patients with autosomal dominant polycystic kidney disease may develop signs or symptoms during childhood, in particular hypertension. Although ambulatory BP monitoring is the preferred method to diagnose hypertension in pediatrics, data in children with autosomal dominant polycystic kidney disease are limited., Design, Setting, Participants, & Measurements: Our retrospective multicenter study was conducted to collect ambulatory BP monitoring recordings from patients with autosomal dominant polycystic kidney disease age <18 years old. Basic anthropometric parameters as well as data on kidney function, BP treatment, and kidney ultrasound were also collected., Results: Data from 310 children with autosomal dominant polycystic kidney disease with a mean age of 11.5±4.1 years old were collected at 22 European centers. At the time when ambulatory BP monitoring was performed, 95% of children had normal kidney function. Reference data for ambulatory BP monitoring were available for 292 patients. The prevalence rates of children with hypertension and/or those who were treated with antihypertensive drugs were 31%, 42%, and 35% during daytime, nighttime, or the entire 24-hour cycle, respectively. In addition, 52% of participants lacked a physiologic nocturnal BP dipping, and 18% had isolated nocturnal hypertension. Logistic regression analysis showed a significant association between a categorical cyst score that was calculated on the basis of the number of cysts >1 cm per kidney and daytime hypertension (odds ratio, 1.70; 95% confidence interval, 1.21 to 2.4; P =0.002), nighttime hypertension (odds ratio, 1.31; 95% confidence interval, 1.05 to 1.63; P =0.02), or 24-hour hypertension (odds ratio, 1.39; 95% confidence interval, 1.08 to 1.81; P =0.01). Kidney length, expressed as SD score, was also significantly associated with nighttime hypertension (odds ratio, 1.23; 95% confidence interval, 1.06 to 1.42; P =0.10)., Conclusions: These data indicate high prevalence of hypertension in children with autosomal dominant polycystic kidney disease starting at young ages., (Copyright © 2018 by the American Society of Nephrology.)
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- 2018
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41. Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
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Ashton EJ, Legrand A, Benoit V, Roncelin I, Venisse A, Zennaro MC, Jeunemaitre X, Iancu D, Van't Hoff WG, Walsh SB, Godefroid N, Rotthier A, Del Favero J, Devuyst O, Schaefer F, Jenkins LA, Kleta R, Dahan K, Vargas-Poussou R, and Bockenhauer D
- Subjects
- Acidosis, Renal Tubular diagnosis, Acidosis, Renal Tubular genetics, Adolescent, Age Factors, Bartter Syndrome diagnosis, Bartter Syndrome genetics, Case-Control Studies, Child, Child, Preschool, Europe, Female, Genetic Markers, Genetic Predisposition to Disease, Gitelman Syndrome diagnosis, Gitelman Syndrome genetics, Heredity, Humans, Infant, Infant, Newborn, Male, Multiplex Polymerase Chain Reaction, Pedigree, Phenotype, Predictive Value of Tests, Reagent Kits, Diagnostic, Renal Tubular Transport, Inborn Errors diagnosis, Risk Factors, DNA Mutational Analysis methods, High-Throughput Nucleotide Sequencing, Mutation, Renal Tubular Transport, Inborn Errors genetics
- Abstract
The clinical diagnosis of inherited renal tubulopathies can be challenging as they are rare and characterized by significant phenotypic variability. Advances in sequencing technologies facilitate the establishment of a molecular diagnosis. Therefore, we determined the diagnostic yield of a next generation sequencing panel assessing relevant disease genes in children followed through three national networks with a clinical diagnosis of a renal tubulopathy. DNA was amplified with a kit provided by the European Consortium for High-Throughput Research in Rare Kidney Diseases with nine multiplex PCR reactions. This kit produced 571 amplicons covering 37 genes associated with tubulopathies followed by massive parallel sequencing and bioinformatic interpretation. Identified mutations were confirmed by Sanger sequencing. Overall, 384 index patients and 16 siblings were assessed. Most common clinical diagnoses were 174 patients with Bartter/Gitelman syndrome and 76 with distal renal tubular acidosis. A total of 269 different variants were identified in 27 genes, of which 95 variants were considered likely, 136 definitely pathogenic and 100 had not been described at annotation. These mutations established a genetic diagnosis in 245 of the index patients. Genetic testing changed the clinical diagnosis in 16 cases and provided insights into the phenotypic spectrum of the respective disorders. Our results demonstrate a high diagnostic yield of genetic testing in children with a clinical diagnosis of a renal tubulopathy, consistent with a predominantly genetic etiology in known disease genes. Thus, genetic testing helped establish a definitive diagnosis in almost two-thirds of patients thereby informing prognosis, management and genetic counseling., (Copyright © 2017 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.)
- Published
- 2018
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42. Genotype and Outcome After Kidney Transplantation in Alport Syndrome.
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Gillion V, Dahan K, Cosyns JP, Hilbert P, Jadoul M, Goffin E, Godefroid N, De Meyer M, Mourad M, Pirson Y, and Kanaan N
- Abstract
Introduction: Alport syndrome (AS) is caused by mutations in α3/α4/α5 (IV) collagen genes, the severity of which determine the progression of AS. Posttransplantation outcome is good, although anti-glomerular basement membrane (anti-GBM) glomerulonephritis occurs in 3% to 5% of recipients, clustering in patients with a severe mutation. We assessed whether the severity of the underlying AS mutation affects graft and patients outcome after transplantation, including the occurrence of anti-GBM nephritis., Methods: We included 73 AS patients with an identified mutation (COL4A5, 57 patients; COL4A3, 9 patients; COL4A4, 6 patients; heterozygous composite COL4A3 and A4, 1 patient) who underwent transplantation between 1971 and 2014 and who had received a total of 93 kidney grafts., Results: In all, 41 patients had a severe mutation (COL4A5, 30 patients; COL4A3, 6 patients; COL4A4, 5 patients), and 32 had a nonsevere mutation (COL4A5, 27 patients; COL4A3, 4 patients; COL4A4, 1 patient). Patient survival was similar in patients with severe and nonsevere mutations (89% vs. 84% at 5 years, 83% vs. 75% at 10, 15, and 20 years; P = 0.46). Graft survival was not affected by the severity of mutation (77% vs. 63% at 5 years, 60% vs. 55% at 10 years, 55% vs. 55% at 15 years, and 55% vs. 50% at 20 years; P = 0.65). Clinically significant anti-GBM glomerulonephritis occurred in 1 male patient with severe COL4A5 mutation 6 years after transplantation recurred in a subsequent graft, leading twice to graft loss., Conclusion: Although severe mutations affect the severity of AS, they do not have an impact on patient and graft survival after transplantation. De novo anti-GBM nephritis after transplantation was less frequent than previously reported, occurring in only 1.4% of AS patients, and in 2% of males with COL4A5 mutation.
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- 2018
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43. Accumulation of uraemic toxins is reflected only partially by estimated GFR in paediatric patients with chronic kidney disease.
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Snauwaert E, Van Biesen W, Raes A, Holvoet E, Glorieux G, Van Hoeck K, Van Dyck M, Godefroid N, Vanholder R, Roels S, Walle JV, and Eloot S
- Subjects
- Adolescent, Arginine analogs & derivatives, Arginine blood, Biomarkers blood, Child, Child, Preschool, Female, Humans, Male, Uric Acid blood, Glomerular Filtration Rate, Renal Insufficiency, Chronic blood, Renal Insufficiency, Chronic diagnosis, Uremia blood
- Abstract
Background: Chronic kidney disease (CKD) in childhood is characterised by the accumulation of uraemic toxins resulting in a multisystem disorder that has a negative impact on quality of life. Childhood CKD is predominantly defined by a decrease in glomerular filtration rate, estimated (eGFR) by a single serum measurement of endogenous biomarkers, e.g. creatinine. The objective of this study was to evaluate how accurately eGFR predicts the concentration of uraemic toxins in a paediatric CKD cohort., Methods: In 65 children (10.8 [5.1; 14.7] years) with CKD (eGFR 44 [20; 64] mL/min/1.73 m
2 ), serum concentrations were determined of small solutes (uric acid [UA], urea, symmetric dimethylarginine [SDMA], asymmetric dimethylarginine [ADMA]), middle molecules (β2-microglobulin [β2M], complement factor D [CfD]) and protein-bound solutes (p-cresylglucuronide [pCG], hippuric acid, indole acetic acid, indoxyl sulphate [IxS], p-cresylsulfate [pCS] and 3-carboxy-4-methyl-5-propyl-furanpropionic acid [CMPF]). Spearman's correlation coefficients (r) were calculated to correlate uraemic toxin concentrations with three different eGFR equations, based on either serum creatinine or β2M., Results: Updated Schwartz eGFR was correlated reasonably well with concentrations of creatinine (r = -0.98), urea (rs = -0.84), SDMA (r = -0.82) and middle molecules CfD and β2M (both rs = -0.90). In contrast, poor correlation coefficients were found for CMPF (rs = -0.32), UA (rs = -0.45), ADMA (rs = -0.47) and pCG (rs = -0.48). The other toxins, all protein-bound, had rs between -0.75 and -0.57. Comparable correlations were found between the three evaluated eGFR equations and uraemic toxin concentrations., Conclusions: This study demonstrates that eGFR poorly predicts concentrations of protein-bound uraemic toxins, UA and ADMA in childhood CKD. Therefore, eGFR only partially reflects the complexity of the accumulation pattern of uraemic toxins in childhood CKD.- Published
- 2018
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44. Belgian consensus statement on the diagnosis and management of patients with atypical hemolytic uremic syndrome.
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Claes KJ, Massart A, Collard L, Weekers L, Goffin E, Pochet JM, Dahan K, Morelle J, Adams B, Broeders N, Stordeur P, Abramowicz D, Bosmans JL, Van Hoeck K, Janssens P, Pipeleers L, Peeters P, Van Laecke S, Levtchenko E, Sprangers B, van den Heuvel L, Godefroid N, and Van de Walle J
- Subjects
- Adult, Antibodies, Monoclonal, Humanized therapeutic use, Belgium, Child, Consensus, Humans, Kidney Transplantation, Nephrology organization & administration, Practice Guidelines as Topic, Atypical Hemolytic Uremic Syndrome diagnosis, Atypical Hemolytic Uremic Syndrome therapy
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- 2018
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45. Evidence for Bone and Mineral Metabolism Alterations in Children With Autosomal Dominant Polycystic Kidney Disease.
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De Rechter S, Bacchetta J, Godefroid N, Dubourg L, Cochat P, Maquet J, Raes A, De Schepper J, Vermeersch P, Van Dyck M, Levtchenko E, D'Haese P, Evenepoel P, and Mekahli D
- Subjects
- Adolescent, Case-Control Studies, Child, Child, Preschool, Cross-Sectional Studies, Female, Fibroblast Growth Factor-23, Humans, Male, Minerals metabolism, Phosphorus metabolism, Polycystic Kidney, Autosomal Dominant complications, Bone Diseases genetics, Bone Diseases metabolism, Bone and Bones metabolism, Calcification, Physiologic genetics, Polycystic Kidney, Autosomal Dominant genetics, Polycystic Kidney, Autosomal Dominant metabolism
- Abstract
Context: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease. Hypophosphatemia was demonstrated in adult patients with preserved renal function, together with high fibroblast growth factor 23 (FGF23) and low soluble Klotho levels. The latter explained the relative FGF23 hyporesponsiveness in this cohort., Objective: Evaluating phosphate and bone mineral metabolism in children with ADPKD compared with what is known in adult ADPKD patients., Design: Observational cross-sectional study., Setting: Multicenter study via ambulatory care in tertiary centers., Participants: Ninety-two children with ADPKD (52 males; mean ± standard deviation age, 10.2 ± 5.0 years) and 22 healthy controls (HCs, 10 males; mean ± standard deviation age, 10.3 ± 4.1 years)., Main Outcome Measures: The predictor was early ADPKD stage. Bone mineral metabolism and renal phosphate handling were the main outcome measures. Performed measurements were serum phosphate, tubular maximum phosphorus reabsorption per glomerular filtration rate, FGF23, soluble Klotho, sclerostin, and bone alkaline phosphatase., Results: ADPKD children had significantly lower serum phosphate levels compared with HC. Low tubular maximum phosphorus reabsorption per glomerular filtration rate was observed in 24% of patients, although not significantly different from HC. Serum FGF23 and soluble Klotho levels were comparable between patients and HC. In addition, we showed decreased bone alkaline phosphatase levels in ADPKD children, suggesting suppressed bone formation., Conclusions: This report demonstrates hypophosphatemia and suppressed bone formation in a pediatric ADPKD cohort, with preserved renal function, compared with HC. Although FGF23 levels were not different from controls, they should be considered inappropriate, given the concomitant hypophosphatemia. Further studies are required to elucidate underlying pathophysiology and potential clinical consequences., (Copyright © 2017 Endocrine Society)
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- 2017
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46. ANCA vasculitis in a patient with Alport syndrome: a difficult diagnosis but a treatable disease!
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Gillion V, Jadoul M, Aydin S, and Godefroid N
- Subjects
- Adolescent, Anti-Inflammatory Agents administration & dosage, Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis complications, Azathioprine administration & dosage, Combined Modality Therapy methods, Cyclophosphamide administration & dosage, Diagnosis, Differential, Humans, Immunosuppressive Agents administration & dosage, Male, Methylprednisolone administration & dosage, Nephritis, Hereditary complications, Treatment Outcome, Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis diagnosis, Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis therapy, Diagnostic Errors prevention & control, Nephritis, Hereditary diagnosis, Nephritis, Hereditary therapy, Plasmapheresis methods
- Abstract
Background: Alport syndrome and ANCA-associated vasculitis are both rare diseases. The co-existence of these two conditions has never been reported. There is no obvious pathogenic link between these two glomerular diseases. The management of this case highlights the importance of a systematic approach when investigating the unexpected unfavourable evolution of a known glomerulopathy., Case Presentation: A-17 year old caucasian boy with a genetically proven X-linked Alport syndrome presented with progressive dyspnea, fatigue and pallor. His blood tests showed a severe anemia (Hb 6.9 g/dl) with acute worsening of kidney function (serum creatinine, normal 9 months earlier, was now 3.6 mg/dl). Microscopic hematuria and proteinuria also worsened. He soon developed signs of alveolar hemorrhage. Serological tests showed the presence of perinuclear ANCA with anti MPO specificity. Kidney biopsy showed a necrotizing and crescentic glomerulonephritis. Pulses of methylprednisolone were given in combination with plasmapheresis. The patient further received 6 pulses of cyclophosphamide, followed by maintenance oral azathioprine. During the 15-months follow up he remained well with serum creatinine back to normal, and some residual proteinuria and hematuria ascribed to Alport syndrome., Conclusion: We report a young patient with the coexistence of Alport syndrome and ANCA associated vasculitis. Clinicians should be aware of the possibility of a second acquired disease in a patient with a known kidney disease, genetic in this case. This coexistence is very rare, but should be considered even if both diseases are rare, if the evolution is atypical for the single (known) primary disease. The diagnosis of the added vasculitis prompted in our case the initiation of immunosuppressive drugs, with a favourable outcome.
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- 2017
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47. Kidney Versus Combined Kidney and Liver Transplantation in Young People With Autosomal Recessive Polycystic Kidney Disease: Data From the European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant (ESPN/ERA-EDTA) Registry.
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Mekahli D, van Stralen KJ, Bonthuis M, Jager KJ, Balat A, Benetti E, Godefroid N, Edvardsson VO, Heaf JG, Jankauskiene A, Kerecuk L, Marinova S, Puteo F, Seeman T, Zurowska A, Pirenne J, Schaefer F, and Groothoff JW
- Subjects
- Adolescent, Child, Child, Preschool, Cohort Studies, Female, Humans, Infant, Liver Cirrhosis mortality, Male, Polycystic Kidney, Autosomal Recessive mortality, Registries, Renal Insufficiency mortality, Societies, Medical, Survival Analysis, Kidney Transplantation, Liver Cirrhosis etiology, Liver Cirrhosis surgery, Liver Transplantation, Polycystic Kidney, Autosomal Recessive complications, Renal Insufficiency etiology, Renal Insufficiency surgery
- Abstract
Background: The choice for either kidney or combined liver-kidney transplantation in young people with kidney failure and liver fibrosis due to autosomal recessive polycystic kidney disease (ARPKD) can be challenging. We aimed to analyze the characteristics and outcomes of transplantation type in these children, adolescents, and young adults., Study Design: Cohort study., Setting & Participants: We derived data for children, adolescents, and young adults with ARPKD with either kidney or combined liver-kidney transplants for 1995 to 2012 from the ESPN/ERA-EDTA Registry, a European pediatric renal registry collecting data from 36 European countries., Factor: Liver transplantation., Outcomes & Measurements: Transplantation and patient survival., Results: 202 patients with ARPKD aged 19 years or younger underwent transplantation after a median of 0.4 (IQR, 0.0-1.4) years on dialysis therapy at a median age of 9.0 (IQR, 4.1-13.7) years. 32 (15.8%) underwent combined liver-kidney transplantation, 163 (80.7%) underwent kidney transplantation, and 7 (3.5%) were excluded because transplantation type was unknown. Age- and sex-adjusted 5-year patient survival posttransplantation was 95.5% (95% CI, 92.4%-98.8%) overall: 97.4% (95% CI, 94.9%-100.0%) for patients with kidney transplantation in contrast to 87.0% (95% CI, 75.8%-99.8%) with combined liver-kidney transplantation. The age- and sex-adjusted risk for death after combined liver-kidney transplantation was 6.7-fold (95% CI, 1.8- to 25.4-fold) greater than after kidney transplantation (P=0.005). Five-year death-censored kidney transplant survival following combined liver-kidney and kidney transplantation was similar (92.1% vs 85.9%; P=0.4)., Limitations: No data for liver disease of kidney therapy recipients., Conclusions: Combined liver-kidney transplantation in ARPKD is associated with increased mortality compared to kidney transplantation in our large observational study and was not associated with improved 5-year kidney transplant survival. Long-term follow-up of both kidney and liver involvement are needed to better delineate the optimal transplantation strategy., (Copyright © 2016 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.)
- Published
- 2016
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48. Kidney transplantation in infantile myofibromatosis and fibromuscular dysplasia: a case report.
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Frezin J, Fusaro F, Reding R, and Godefroid N
- Subjects
- Child, Child, Preschool, Female, Humans, Hypertension, Renovascular etiology, Kidney diagnostic imaging, Kidney pathology, Myofibromatosis complications, Radiography, Renal Insufficiency etiology, Fibromuscular Dysplasia complications, Hypertension, Renovascular surgery, Kidney Transplantation, Myofibromatosis congenital, Renal Insufficiency surgery
- Abstract
Introduction: We report what we believe to be the first case of a child affected by two rare vascular diseases complicated by kidney failure and successfully treated by kidney transplantation., Case Presentation: A 3-year-old Caucasian girl with fibromuscular dysplasia and infantile myofibromatosis presented with arterial hypertension and renal failure. She received a deceased donor kidney transplantation distal to an iliac graft. The technical peculiarities of this transplantation are described, as well as her favorable long-term outcome., Conclusion: Kidney transplantation may be considered in a patient with vascular diseases and a history of iliac surgery.
- Published
- 2015
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49. Corticosteroid-free Kidney Transplantation Improves Growth: 2-Year Follow-up of the TWIST Randomized Controlled Trial.
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Webb NJ, Douglas SE, Rajai A, Roberts SA, Grenda R, Marks SD, Watson AR, Fitzpatrick M, Vondrak K, Maxwell H, Jaray J, Van Damme-Lombaerts R, Milford DV, Godefroid N, Cochat P, Ognjanovic M, Murer L, McCulloch M, and Tönshoff B
- Subjects
- Adrenal Cortex Hormones adverse effects, Antibodies, Monoclonal, Humanized administration & dosage, Child, Child Development drug effects, Child, Preschool, Daclizumab, Drug Administration Schedule, Female, Follow-Up Studies, Graft Rejection, Graft Survival drug effects, Humans, Immunoglobulin G administration & dosage, Immunosuppressive Agents adverse effects, Kidney Transplantation adverse effects, Male, Mycophenolic Acid administration & dosage, Mycophenolic Acid analogs & derivatives, Tacrolimus administration & dosage, Adrenal Cortex Hormones administration & dosage, Immunosuppressive Agents administration & dosage, Kidney Transplantation methods
- Abstract
Background: Corticosteroid withdrawal (CW) after pediatric kidney transplantation potentially improves growth while avoiding metabolic and other adverse events. We have recently reported the results of a 196 subject randomized controlled trial comparing early CW (tacrolimus, mycophenolate mofetil (MMF), daclizumab, and corticosteroids until day 4) with tacrolimus, MMF, and corticosteroid continuation (CC). At 6 months, CW subjects showed better growth with no adverse impact on acute rejection or graft survival (Am J Transplant 2010; 10: 828-836). This 2-year investigator-driven follow-up study aimed to determine whether improved growth persisted in the longer term., Methods: Data regarding growth, graft outcomes and adverse events were collected at 1 year (113 patients) and 2 years (106 patients) after transplantation. The primary endpoint, longitudinal growth calculated as delta height standard deviation score, was analyzed using a mixed model repeated measures model., Results: Corticosteroid withdrawal subjects grew better at 1 year (difference in adjusted mean change, 0.25; 95% confidence interval, 0.10, 0.40; P = 0.001). At 2 years, growth remained numerically better in CW subjects (0.20 (-0.01, 0.41); P = 0.06), and significantly better in prepubertal subjects (0.50 (0.16, 0.84); P = 0.004). Bacterial and viral infection was significantly more common in CW subjects at 1 year only. Corticosteroid withdrawal and CC subjects received similar exposure to both tacrolimus and MMF at 1 and 2 years. No significant difference in patient or graft survival, rejection, estimated glomerular filtration rate, or other adverse events was detected., Conclusion: Early CW effectively and safely improves growth up to 2 years after transplantation, particularly in prepubertal children.
- Published
- 2015
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50. Children of non-Western origin with end-stage renal disease in the Netherlands, Belgium and a part of Germany have impaired health-related quality of life compared with Western children.
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Schoenmaker NJ, Haverman L, Tromp WF, van der Lee JH, Offringa M, Adams B, Bouts AH, Collard L, Cransberg K, van Dyck M, Godefroid N, van Hoeck K, Koster-Kamphuis L, Lilien MR, Raes A, Taylan C, Grootenhuis MA, and Groothoff JW
- Subjects
- Adolescent, Belgium epidemiology, Child, Child, Preschool, Female, Germany epidemiology, Health Status, Humans, Incidence, Kidney Failure, Chronic therapy, Male, Netherlands epidemiology, Prevalence, Prognosis, Renal Replacement Therapy, Retrospective Studies, Ethnicity, Kidney Failure, Chronic ethnology, Kidney Failure, Chronic psychology, Quality of Life
- Abstract
Background: Many children with end-stage renal disease (ESRD) living in Western Europe are of non-Western European origin. They have unfavourable somatic outcomes compared with ESRD children of Western origin. In this study, we compared the Health-related Quality of Life (HRQoL) of both groups., Methods: All children (5-18 years) with ESRD included in the RICH-Q project (Renal Insufficiency therapy in Children-Quality assessment and improvement) or their parents were asked to complete the generic version of the Paediatric Quality-of-Life Inventory 4.0 (PedsQL). RICH-Q comprises the Netherlands, Belgium and a part of Germany. Children were considered to be of non-Western origin if they or at least one parent was born outside Western-European countries. Impaired HRQoL for children with ESRD of Western or non-Western origin was defined as a PedsQL score less than fifth percentile for healthy Dutch children of Western or non-Western origin, respectively., Results: Of the 259 eligible children, 230 agreed to participate. One hundred and seventy-four children responded (response rate 67%) and 55 (32%) were of non-Western origin. Overall, 31 (56%) of the ESRD children of non-Western origin, and 58 (49%) of Western origin had an impaired total HRQoL score. Total HRQoL scores of children with ESRD of Western origin and non-Western origin were comparable, but scores on emotional functioning and school functioning were lower in non-Western origin (P=0.004 and 0.01, respectively). The adjusted odds ratios (95% confidence interval) for ESRD children of non-Western origin to have impaired emotional functioning and school functioning, compared with Western origin, were 3.3(1.5-7.1) and 2.2(1.1-4.2), respectively., Conclusion: Children with ESRD of non-Western origin in three Western countries were found to be at risk for impaired HRQoL on emotional and school functioning. These children warrant special attention.
- Published
- 2014
- Full Text
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