184 results on '"Mekahli D"'
Search Results
2. Iatrogenic Cushing syndrome in a child due to erroneous compounding of omeprazole containing glucocorticoid: A case report and literature review
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Jordens, Q., Sevenants, L., de Zegher, F., Mekahli, D., and Casteels, K.
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- 2023
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3. Standardized 4-point scoring scale of [18F]-FDG PET/CT imaging helps in the diagnosis of renal and hepatic cyst infections in patients with autosomal dominant polycystic kidney disease: A validation cohort
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Demuynck, S., primary, Lovinfosse, P., additional, Seidel, L., additional, Mekahli, D., additional, Jouret, F., additional, Bammens, B., additional, and Goffin, K., additional
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- 2022
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4. POS-371 Apelin is Altered Early in Autosomal Dominant Polycystic Kidney Disease
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JANSSENS, P., primary, Decuypere, J.P., additional, Bammens, B., additional, Llorens-Cortes, C., additional, Torres, V., additional, Cools, W., additional, Vennekens, R., additional, and Mekahli, D., additional
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- 2022
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5. POS-054 PERSISTENT MARKERS OF RENAL INJURY IN CHILDREN WHO DEVELOPED ACUTE KIDNEY INJURY AFTER PEDIATRIC CARDIAC SURGERY: A PROSPECTIVE COHORT STUDY
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Van den Eynde, J., primary, Salaets, T., additional, Louw, J.J., additional, Herman, J., additional, Breysem, L., additional, Vlasselaers, D., additional, Desmet, L., additional, Meyns, B., additional, Budts, W., additional, Gewillig, M., additional, and Mekahli, D., additional
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- 2022
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6. Survey of First-Year Medical Students to Assess Their Knowledge and Attitudes Toward Organ Transplantation and Donation
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Mekahli, D., Liutkus, A., Fargue, S., Ranchin, B., and Cochat, P.
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- 2009
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7. Polycystins and cellular Ca2+ signaling
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Mekahli, D., Parys, Jan B., Bultynck, G., Missiaen, L., and De Smedt, H.
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- 2013
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8. POS-422 ADPEDKD: A GLOBAL ONLINE PLATFORM TO EXPLORE THE CHILDHOOD PHENOTYPE OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
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DACHY, A., primary, De Rechter, S., additional, Guay-Woodford, L.M., additional, Mallett, A.J., additional, Harris, T., additional, Böckenhauer, D., additional, Schaefer, F., additional, Liebau, M.C., additional, and Mekahli, D., additional
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- 2021
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9. Chapitre 59 - Sclérose tubéreuse de Bourneville
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Mekahli, D. and Jouret, F.
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- 2020
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10. Chapitre 57 - Polykystose hépatorénale autosomique dominante
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Mekahli, D. and Jouret, F.
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- 2020
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11. Hirschprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a genetic disorder or just a coincidence?
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Eelen, Julie, Miserez, Marc, Mekahli, D, and Hoffman, Ilse
- Abstract
ispartof: Belgian Journal of Paediatrics vol:22 issue:3 pages:126-129 status: published
- Published
- 2020
12. SAT-444 GENOTYPE - PHENOTYPE CORRELATION IN A PEDIATRIC ADPKD COHORT
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VAN GIEL, D., primary, De Rechter, S., additional, Breysem, L., additional, Hindryckx, A., additional, Janssens, P., additional, Decuypere, J.P., additional, Bammens, B., additional, Corveleyn, A., additional, Ferec, C., additional, Vennekens, R., additional, Harris, P., additional, Audrézet, M.P., additional, and Mekahli, D., additional
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- 2020
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13. SAT-448 CYTOPENIA IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD): JUST AN ASSOCIATION OR DISEASE-RELATED FEATURE WITH PROGNOSTIC IMPLICATIONS?
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SCHELLEKENS, P., primary, Roosens, W., additional, Vennekens, R., additional, Meyts, I., additional, Mekahli, D., additional, and Bammens, B., additional
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- 2020
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14. SAT-443 INTERDEPENDENT REGULATION OF POLYCYSTINS INFLUENCES AUTOPHAGY, CELL DEATH AND PROLIFERATION
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Decuypere, J.P., primary, Janssens, P., additional, Dong, K., additional, Cai, Y., additional, Mekahli, D., additional, and Vennekens, R., additional
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- 2020
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15. SAT-463 ADPedKD: A Global Online Platform on the management of Children with Autosomal Dominant Polycystic Kidney Disease
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DE RECHTER, S., primary, Bockenhauer, D., additional, Guay-Woodford, L., additional, Lui, I., additional, Mallett, A., additional, Soliman, N., additional, Sylvestre, L., additional, Schaefer, F., additional, Liebau, M., additional, and Mekahli, D., additional
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- 2020
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16. ADPedKD: A Global Online Platform on the Management of Children With
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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
17. Imaging of kidney cysts and cystic kidney diseases in children. Consensus paper by an ad hoc committee
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Gimpel, C, additional, Avni, EF, additional, Breysem, L, additional, Burgmaier, K, additional, Caroli, A, additional, Cetiner, M, additional, Haffner, D, additional, Hartung, EA, additional, Franke, D, additional, König, J, additional, Liebau, MC, additional, Mekahli, D, additional, Ong, ACM, additional, Pape, L, additional, Titieni, A, additional, Torra, R, additional, and Winyard, PJD, additional
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- 2018
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18. PP15.1 – 2964: Long-term renal outcome of a large cohort of patients with tuberous sclerosis complex
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De Waele, L., primary, Van Hoeve, K., additional, Janssens, P., additional, Claes, K., additional, Lagae, L., additional, Levtchenko, E., additional, Bammens, B., additional, Mekahli, D., additional, and Jansen, A., additional
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- 2015
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19. O-182 Hnf1b Mutations In Patients With Congenital Abnormalities Of Kidney And Urinary Tract (cakut): Are We Screening Too Much?
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Raaijmakers, A, primary, Mekahli, D, additional, Van Dyck, M, additional, Corveleyn, A, additional, Allegaert, K, additional, Devriendt, K, additional, Kuypers, D, additional, Claes, K, additional, and Levtchenko, E, additional
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- 2014
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20. RENAL DEVELOPMENT AND CYSTIC DISEASES
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Cabrera-Lopez, C., primary, Ars, E., additional, Marti, T., additional, Harris, P. C., additional, Torra, R., additional, Clerckx, C., additional, Migeon, T., additional, Chen, Z., additional, Ronco, P., additional, Plaisier, E., additional, Lamers, I. J., additional, Van Reeuwijk, J., additional, Azam, M., additional, Boldt, K., additional, Maria, M., additional, Koster-Kamphuis, L., additional, Qamar, R., additional, Ueffing, M., additional, Cremers, F. P., additional, Roepman, R., additional, Arts, H. H., additional, Papizh, S., additional, Dlin, V., additional, Leontieva, I., additional, Tutelman, K., additional, Perrone, R. D., additional, Bae, K. T., additional, Chapman, A. B., additional, Devuyst, O., additional, Gansevoort, R. T., additional, Grantham, J. J., additional, Higashihara, E., additional, Torres, V. E., additional, Sergeyeva, O., additional, Zhou, W., additional, Blais, J. D., additional, Czerwiec, F. S., additional, Liu, F., additional, Liao, Y., additional, Fu, P., additional, Casteleijn, N., additional, Zittema, D., additional, Bakker, S., additional, Boertien, W., additional, Gaillard, C., additional, Meijer, E., additional, Spithoven, E., additional, Struck, J., additional, Gansevoort, R., additional, Robinson, P., additional, McEwan, P., additional, Hadimeri, H., additional, Ong, A. C. M., additional, Orskov, B., additional, Peces, R., additional, Sandford, R., additional, Scolari, F., additional, Walz, G., additional, Cooke, C., additional, O'Reilly, K., additional, Riwanto, M., additional, Kapoor, S., additional, Rodriguez, D., additional, Edenhofer, I., additional, Segerer, S., additional, Wuthrich, R. P., additional, De Rechter, S., additional, Bacchetta, J., additional, Van Dyck, M., additional, Evenepoel, P., additional, De Schepper, J., additional, Levtchenko, E., additional, Mekahli, D., additional, Carr, A., additional, Makin, A., additional, Baker, A., additional, Obeidova, L., additional, Stekrova, J., additional, Seeman, T., additional, Puchmajerova, A., additional, Reiterova, J., additional, Kohoutova, M., additional, Tesar, V., additional, Treille, S., additional, Bailly, J.-M., additional, Guillaume, B., additional, Tuta, L., additional, Stanigut, A., additional, Botea, F., additional, Jo, H. A., additional, Park, H. C., additional, Kim, H., additional, Han, M., additional, Huh, H., additional, Jeong, J. C., additional, Oh, K.-H., additional, Yang, J., additional, Koo, T. Y., additional, Hwang, Y.-H., additional, Ahn, C., additional, Pisani, A., additional, Remuzzi, G., additional, Ruggenenti, P., additional, Riccio, E., additional, Visciano, B., additional, Spinelli, L., additional, Kim, J. I., additional, Park, K. M., additional, Liu, F. X., additional, Rutherford, P., additional, Smoyer-Tomic, K., additional, Martinez Jimenez, V., additional, Comas, J., additional, Arcos, E., additional, Diaz, J. M., additional, Muray, S., additional, Cabezuelo, J., additional, Ballarin, J., additional, Miyaoka, T., additional, Morimoto, S., additional, Kataoka, H., additional, Mochizuki, T., additional, Tsuchiya, K., additional, Ichihara, A., additional, and Nitta, K., additional
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- 2014
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21. CYSTIC DISEASE AND CILIOPATHIES
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Hoshino, J., primary, Suwabe, T., additional, Sumida, K., additional, Mise, K., additional, Hayami, N., additional, Kawada, M., additional, Imafuku, A., additional, Hiramatsu, R., additional, Hasegawa, E., additional, Sawa, N., additional, Ubara, Y., additional, Takaichi, K., additional, Yamamoto, J., additional, Ishikawa, Y., additional, Nakagaki, T., additional, Shibazaki, S., additional, Nishio, S., additional, Atsumi, T., additional, Westland, R., additional, Verbitsky, M., additional, Vukojevic, K., additional, Perry, B. J., additional, Fasel, D. A., additional, Zwijnenburg, P. J. G., additional, Gille, J. J. P., additional, Bokenkamp, A., additional, D'Agati, V. D., additional, Gharavi, A. G., additional, Schreuder, M. F., additional, Van Wijk, J. A. E., additional, Sanna-Cherchi, S., additional, Rodriguez, D., additional, Riwanto, M., additional, Edenhofer, I., additional, Segerer, S., additional, Wuthrich, R. P., additional, Kapoor, S., additional, Raaijmakers, A. M. J., additional, Mekahli, D., additional, Van Dyck, M., additional, Corveleyn, A., additional, Allegaert, K., additional, Deviendt, K., additional, Kuypers, D., additional, Claes, K., additional, and Levtchenko, E. N., additional
- Published
- 2014
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22. P1252 EVEROLIMUS HALTS DISEASE PROGRESSION IN A RODENT MODEL OF POLYCYSTIC LIVER DISEASE: RESULTS OF A LONGITUDINAL MRI-STUDY
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Temmerman, F., primary, Chen, F., additional, van Pelt, J., additional, Mekahli, D., additional, Levtchenko, E., additional, Ni, Y., additional, and Nevens, F., additional
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- 2014
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23. Cell signalling
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Tsuchiya, K., primary, Shiohira, S., additional, Sugiura, H., additional, Suzuki, M., additional, Okano, K., additional, Nitta, K., additional, Kaesler, N., additional, Immendorf, S., additional, Ouyang, C., additional, Carmeliet, P., additional, Floege, J., additional, Kruger, T., additional, Schlieper, G., additional, Georgescu, A., additional, Kalucka, J., additional, Olbrich, S., additional, Baumgartl, J., additional, Hackenbeck, T., additional, Eckardt, K.-U., additional, Weidemann, A., additional, Chmielewski, S., additional, Olejnik, A., additional, Sikorski, K., additional, Heemann, U., additional, Wesoly, J., additional, Bluyssen, H., additional, Baumann, M., additional, Mekahli, D., additional, Decuypere, J.-P., additional, Missiaen, L., additional, Levtchenko, E., additional, De Smedt, H., additional, Stasi, A., additional, Castellano, G., additional, Gigante, M., additional, Intini, A., additional, Pontrelli, P., additional, Divella, C., additional, Curci, C., additional, Grandaliano, G., additional, Gesualdo, L., additional, Vizza, D., additional, Perri, A., additional, Lofaro, D., additional, Toteda, P., additional, Lupinacci, S., additional, Leone, F., additional, Gigliotti, P., additional, Papalia, T., additional, Bonofiglio, R., additional, Vatazin, A. V., additional, Astakhov, P. V., additional, Zulkarnaev, A. B., additional, Parodi, E., additional, Verzola, D., additional, D'Amato, E., additional, Viazzi, F., additional, Gonnella, A., additional, Garneri, D., additional, Pontremoli, R., additional, Garibotto, G., additional, Chen, T.-H., additional, Chen, C.-H., additional, Chen, Y.-C., additional, Sue, Y.-M., additional, Cheng, C.-Y., additional, Guiying, L., additional, Ying, L., additional, Pozzoli, S., additional, Lino, M., additional, Delli Carpini, S., additional, Ferrandi, M., additional, Zerbini, G., additional, Simonini, M., additional, Zagato, L., additional, Molinari, I., additional, Citterio, L., additional, Manunta, P., additional, Feng, X., additional, Pan, X., additional, Wang, W., additional, Chen, N., additional, Chen, Y.-x., additional, Wang, W.-M., additional, Tanaka, S., additional, Yano, S., additional, Sugimoto, T., additional, Noh, H., additional, Yu, M. R., additional, Kim, H. J., additional, Woo, S. A., additional, Cho, Y. J., additional, Kwon, S. H., additional, Jeon, J. S., additional, Han, D. C., additional, Shimizu, H., additional, Yisireyili, M., additional, Nishijima, F., additional, Niwa, T., additional, Koh, E. S., additional, Chung, S., additional, Kim, S. J., additional, Yoon, H. E., additional, Park, C. W., additional, Chang, Y. S., additional, Shin, S. J., additional, Seong, E. Y., additional, Rhee, H., additional, Shin, M. J., additional, Yang, B. Y., additional, Jung, Y. S., additional, Lee, D. W., additional, Lee, S. B., additional, Kwak, I. S., additional, Kim, I. Y., additional, Sancho-Martinez, S. M., additional, Prieto-Garcia, L., additional, Lopez-Hernandez, F. J., additional, Lopez-Novoa, J. M., additional, Bae, E. H., additional, Choi, H. S., additional, Joo, S. Y., additional, Kim, I. J., additional, Kim, C. S., additional, Choi, J. S., additional, Ma, S. K., additional, Lee, J., additional, Kim, S. W., additional, Humanes, B., additional, Sonia, C., additional, Jado, J., additional, Mojena, M., additional, Lara, J., additional, Alvarez-Sala, L., additional, Tejedor, A., additional, Lazaro, A., additional, Wada, Y., additional, Iyoda, M., additional, Matsumoto, K., additional, Shindo-Hirai, Y., additional, Kuno, Y., additional, Yamamoto, Y., additional, Suzuki, T., additional, Shibata, T., additional, Akizawa, T., additional, Faubel, S., additional, Edelstein, C. L., additional, Cano Penalver, J. L., additional, de Frutos Garcia, S., additional, Griera Merino, M., additional, Luengo Rodriguez, A., additional, Garcia Jerez, A., additional, Bohorquez Magro, L., additional, Medrano, D., additional, Calleros Basilio, L., additional, Rodriguez Puyol, M., additional, Thilo, F., additional, Liu, Y., additional, Tepel, M., additional, Hsu, H.-H., additional, Chen, K.-H., additional, Hung, C.-C., additional, Yang, C.-W., additional, Endlich, N., additional, Lin, J.-L., additional, Pavenstadt, H., additional, Rodrigues Diez, R. R., additional, Mezzano, S., additional, Ruiz-Ortega, M., additional, Rodrigues Diez, R., additional, Lavoz, C., additional, Nakayama, Y., additional, Fukami, K., additional, Yamagishi, S.-i., additional, Obara, N., additional, Yokoro, M., additional, Ando, R., additional, Kaida, Y., additional, Toyonaga, M., additional, Kaifu, K., additional, Takeuchi, M., additional, Ueda, S., additional, Okuda, S., additional, Daenen, K., additional, Hoylaerts, M. F., additional, Bammens, B., additional, Liu, J., additional, Zhong, F., additional, Dai, Q., additional, Xu, L., additional, Zaravinos, A., additional, and Deltas, C. C., additional
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- 2013
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24. Polycystins and cellular Ca2+ signaling
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Mekahli, D., primary, Parys, Jan B., additional, Bultynck, G., additional, Missiaen, L., additional, and De Smedt, H., additional
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- 2012
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25. 1336 Postnatal Serum Creatinine Trends in Neonates: Jaffe Compared to Enzymatic Quantification Technique
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Smits, A., primary, Kelchtermans, J., additional, Hendrickx, S., additional, Mekahli, D., additional, Vanstapel, F., additional, Vermeersch, P., additional, Levtchenko, E., additional, and Allegaert, K., additional
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- 2012
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26. Polycystin-1 and polycystin-2 are both required to amplify inositol-trisphosphate-induced Ca2+ release
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Mekahli, D., primary, Sammels, E., additional, Luyten, T., additional, Welkenhuyzen, K., additional, van den Heuvel, L.P., additional, Levtchenko, E.N., additional, Gijsbers, R., additional, Bultynck, G., additional, Parys, J.B., additional, De Smedt, H., additional, and Missiaen, L., additional
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- 2012
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27. Creatinaemia in ELBW Neonates: Jaffe Colorimetry Versus Enzymatic Analysis
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Kuppens, M, primary, George, I, additional, Mekahli, D, additional, Debeer, A, additional, Van Den Anker, J, additional, Levtchenko, E, additional, and Allegaert, K, additional
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- 2011
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28. Endoplasmic-Reticulum Calcium Depletion and Disease
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Mekahli, D., primary, Bultynck, G., additional, Parys, J. B., additional, De Smedt, H., additional, and Missiaen, L., additional
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- 2011
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29. PRIMARY LAPAROSCOPIC‐ASSISTED PULL‐THROUGH COMPARED WITH OPEN THREE‐STAGE PROCEDURE FOR HIRSCHSPRUNG'S DISEASE
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Auwera, A Vander, primary, Mekahli, D, additional, Janssens, V, additional, Penninckx, F, additional, Miserez, M, additional, and Hoffman, I, additional
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- 2005
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30. Polycystin-1 and polycystin-2 are both required to amplify inositol-trisphosphate-induced Ca2+ release.
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Mekahli, D., Sammels, E., Luyten, T., Welkenhuyzen, K., van den Heuvel, L.P., Levtchenko, E.N., Gijsbers, R., Bultynck, G., Parys, J.B., De Smedt, H., and Missiaen, L.
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POLYCYSTIC kidney disease ,INOSITOL trisphosphate ,GENETIC mutation ,ENDOPLASMIC reticulum ,POLYCYSTINS ,EPITHELIAL cells ,CELL membranes ,CALCIUM ions - Abstract
Abstract: Autosomal dominant polycystic kidney disease is caused by loss-of-function mutations in the PKD1 or PKD2 genes encoding respectively polycystin-1 and polycystin-2. Polycystin-2 stimulates the inositol trisphosphate (IP
3 ) receptor (IP3 R), a Ca2+ -release channel in the endoplasmic reticulum (ER). The effect of ER-located polycystin-1 is less clear. Polycystin-1 has been reported both to stimulate and to inhibit the IP3 R. We now studied the effect of polycystin-1 and of polycystin-2 on the IP3 R activity under conditions where the cytosolic Ca2+ concentration was kept constant and the reuptake of released Ca2+ was prevented. We also studied the interdependence of the interaction of polycystin-1 and polycystin-2 with the IP3 R. The experiments were done in conditionally immortalized human proximal-tubule epithelial cells in which one or both polycystins were knocked down using lentiviral vectors containing miRNA-based short hairpins. The Ca2+ release was induced in plasma membrane-permeabilized cells by various IP3 concentrations at a fixed Ca2+ concentration under unidirectional45 Ca2+ -efflux conditions. We now report that knock down of polycystin-1 or of polycystin-2 inhibited the IP3 -induced Ca2+ release. The simultaneous presence of the two polycystins was required to fully amplify the IP3 -induced Ca2+ release, since the presence of polycystin-1 alone or of polycystin-2 alone did not result in an increased Ca2+ release. These novel findings indicate that ER-located polycystin-1 and polycystin-2 operate as a functional complex. They are compatible with the view that loss-of-function mutations in PKD1 and in PKD2 both cause autosomal dominant polycystic kidney disease. [Copyright &y& Elsevier]- Published
- 2012
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31. CREATINAEMIA IN ELBW INFANTS: JAFFE VERSUS ENZYMATIC ASSESSMENT IS OF CLINICAL RELEVANCE
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Kuppens, M., Mekahli, D., Levtchenko, E., Anne Smits, Debeer, A., Naulaers, G., and Allegaert, K.
32. 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.
33. Antibiotic Prophylaxis in Infants with Grade III, IV, or V Vesicoureteral Reflux.
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Morello, W., Baskin, E., Jankauskiene, A., Yalcinkaya, F., Zurowska, A., Puccio, G., Seraflnelli, J., Manna, A. La, Krzemień, G., Pennesi, M., Scola, C. La, Becherucci, F., Brugnara, M., Yuksel, S., Mekahli, D., Chimenz, R., De Palma, D., Zucchetta, P., Vajauskas, D., and Drozdz, D.
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URINARY tract infections , *VESICO-ureteral reflux , *ANTIBIOTIC prophylaxis , *INFANTS , *GLOMERULAR filtration rate , *DRUG resistance in bacteria - Abstract
The efficacy of continuous antibiotic prophylaxis in preventing urinary tract infection (UTI) in infants with grade III, IV, or V vesicoureteral reflux is controversial. METHODS In this investigator-initiated, randomized, open-label trial performed in 39 European centers, we randomly assigned infants 1 to 5 months of age with grade III, IV, or V vesicoureteral reflux and no previous UTIs to receive continuous antibiotic prophylaxis (prophylaxis group) or no treatment (untreated group) for 24 months. The primary outcome was the occurrence of the first UTI during the trial period. Secondary outcomes included new kidney scarring and the estimated glomerular filtration rate (GFR) at 24 months. RESULTS A total of 292 participants underwent randomization (146 per group). Approximately 75% of the participants were male; the median age was 3 months, and 235 participants (80.5%) had grade IV or V vesicoureteral reflux. In the intention-to-treat analysis, a first UTI occurred in 31 participants (21.2%) in the prophylaxis group and in 52 participants (35.6%) in the untreated group (hazard ratio, 0.55; 95% confidence interval [CI], 0.35 to 0.86; P=0.008); the number needed to treat for 2 years to prevent one UTI was 7 children (95% CI, 4 to 29). Among untreated participants, 64.4% had no UTI during the trial. The incidence of new kidney scars and the estimated GFR at 24 months did not differ substantially between the two groups. Pseudomonas species, other non-Escherichia coli organisms, and antibiotic resistance were more common in UTI isolates obtained from participants in the prophylaxis group than in isolates obtained from those in the untreated group. Serious adverse events were similar in the two groups. CONCLUSIONS In infants with grade III, IV, or V vesicoureteral reflux and no previous UTIs, continuous antibiotic prophylaxis provided a small but significant benefit in preventing a first UTI despite an increased occurrence of non-E. coli organisms and antibiotic resistance. (Funded by the Italian Ministry of Health and others; PREDICT ClinicalTrials.gov number, NCT02021006; EudraCT number, 2013-000309-21.) [ABSTRACT FROM AUTHOR]
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- 2023
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34. Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies
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Halawi, Abdul A., Burgmaier, Kathrin, Buescher, Anja K., Dursun, Ismail, Erger, Florian, Galiano, Matthias, Gessner, Michaela, Gokce, Ibrahim, Mekahli, Djalila, Mir, Sevgi, Obrycki, Lukasz, Shroff, Rukshana, Stabouli, Stella, Szczepańska, Maria, Teixeira, Ana, Weber, Lutz T., Wenzel, Andrea, Wuhl, Elke, Zachwieja, Katarzyna, Dotsch, Jorg, Schaefer, Franz, Liebau, Max C., and Halawi A. A., Burgmaier K., Buescher A. K., DURSUN İ., Erger F., Galiano M., Gessner M., GÖKCE İ., Mekahli D., Mir S., et al.
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Internal Diseases ,TMEM67 ,Internal Medicine Sciences ,polycystic kidney disease ,Klinik Tıp ,PKD2 ,PKD1 ,Medizin ,PKHD1 ,Dahili Tıp Bilimleri ,CLINICAL MEDICINE ,Sağlık Bilimleri ,İç Hastalıkları ,Clinical Medicine (MED) ,Tıp ,Nefroloji ,Nephrology ,UROLOGY & NEPHROLOGY ,Health Sciences ,Medicine ,Klinik Tıp (MED) ,ciliopathies ,ÜROLOJİ VE NEFROLOJİ - Abstract
in press, CA extern
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- 2023
35. Low-dose antibiotic prophylaxis induces rapid modifications of the gut microbiota in infants with vesicoureteral reflux
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Morello, William, D'Amico, Federica, Serafinelli, Jessica, Turroni, Silvia, Abati, Isabella, Fior, Jessica, Baskin, Esra, Yalcinkaya, Fatos, Jankauskiene, Augustina, Pennesi, Marco, Żurowska, Aleksandra, Becherucci, Francesca, Drożdż, Dorota, Mekahli, Djalila, Krzemien, Grazyna, La Scola, Claudio, Taranta-Janusz, Katarzyna, Mehls, Otto, Schaefer, Franz, Candela, Marco, Montini, Giovanni, Morello W., D'Amico F., Serafinelli J., Turroni S., Abati I., Fiori J., Baskin E., Yalcinkaya F., Jankauskiene A., Pennesi M., Zurowska A., Becherucci F., Drozdz D., Mekahli D., Krzemien G., La Scola C., Taranta-Janusz K., Mehls O., Schaefer F., Candela M., and Montini G.
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children ,gut microbiota ,antibiotic prophylaxis ,antibiotic prophylaxi ,vesicoureteral reflux ,CAP ,antibiotic ,Brief Research Report ,urinary tract infection ,Pediatrics - Abstract
Background and Objectives: Maturation of the gut microbiota (GM) in infants is critically affected by environmental factors, with potential long-lasting clinical consequences. Continuous low-dose antibiotic prophylaxis (CAP) is the standard of care for children with vesicoureteral reflux (VUR), in order to prevent recurrent urinary tract infections. We aimed to assess short-term GM modifications induced by CAP in infants. Methods: We analyzed the GM structure in 87 infants (aged 1-5 months) with high-grade VUR, previously exposed or naïve to CAP. Microbial DNA was extracted from stool samples. GM profiling was achieved by 16S rRNA gene-based next-generation sequencing. Fecal levels of short- and branched-chain fatty acids were also assessed. Results: 36/87 patients had been taking daily CAP for a median time of 47 days, while 51/87 had not. In all patients, the GM was predominantly composed by Bifidobacteriaceae and Enterobacteriaceae. Subgroup comparative analysis revealed alterations in the GM composition of CAP-exposed infants at phylum, family and genus level. CAP-exposed GM was enriched in members of Enterobacteriaceae and Bacteroidetes, especially in the genera Bacteroides and Parabacteroides, and showed a trend toward increased Klebsiella, often associated with antibiotic resistance. In contrast, the GM of non-CAP children was mostly enriched in Bifidobacterium. No differences were found in fatty acid levels. Conclusions: In infants with VUR, even a short exposure to CAP definitely alters the GM composition, with increased relative abundance of opportunistic pathogens and decreased proportions of health-promoting taxa. Early low-dose antibiotic exposure might bear potential long-term clinical risks. ispartof: FRONTIERS IN PEDIATRICS vol:9 ispartof: location:Switzerland status: published
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- 2021
36. 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.
- Published
- 2019
37. Is Autosomal Dominant Polycystic Kidney Disease a pediatric disorder? From AdultDPKD to ADPediatricKD : Is autosomaal dominante polycystische nierziekte een pediatrische aandoening?
- Author
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De Rechter, S, De Smedt, H, Levtchenko, E, and Mekahli, D
- Subjects
urologic and male genital diseases - Abstract
In this PhD project, on the eve of broadening the AdultDPKD horizon with ADPediatricKD, we explored the childhood ADPKD phenotype and the challenges concerning its management, in order to urge the need for a standardized and multidisciplinary approach, as many ambiguities still exist. First, we confirmed the existence of the latter, by showing that the clinicians' attitudes and current clinical practice are lacking an agreement regarding testing in asymptomatic offspring and family planning. Indeed, this results in conflicting information given to the families followed up with ADPKD. More specifically, asymptomatic offspring might be undiagnosed until irreversible complications develop. As demonstrated in our survey, health caregivers share a responsibility to inform offspring on their risk, together with the parents. Second, we collected evidence for the care of ADPKD offspring. We demonstrated that children display both cardiovascular and phosphate and bone mineral metabolism alterations in the early disease stages of ADPKD. Concerning the latter, we encountered a significant prevalence of hypertension in ADPKD children and generated evidence that a 24h ABPM should be the preferred modality to monitor blood pressure in this population. Only by this means, the non-dipping, white-coat and masked hypertension phenotypes can be identified. As it has been shown in several reports that blood pressure control has an essential role in long-term cardiovascular outcome, it is important to screen for it in the at risk population. Finally, we generated novel tools to be used in the future to facilitate the establishment of childhood ADPKD management guidelines. We succeeded to initiate a global registry on childhood ADPKD, called 'ADPedKD' (www.ADPedKD.org) as a promising tool, together with a longitudinal biobank of well characterized and genotyped ADPKD children. We also described a new modality for TKV measurement in ADPKD children by demonstrating that the novel developed 3DUS technique is a valuable method to MRI to measure the renal volume. We have laid the foundations to meet the following challenges in the near future: identification of rapid progressors at childhood and defining childhood outcome parameters, which are fundamental milestones in the future pediatric research. After all, the best chance for preserving long-term renal function may be given by an early therapeutic start. status: published
- Published
- 2018
38. Pharmacovigilance of nephrotoxic drugs in neonates: the Pottel method for acute kidney injury detection in ELBW neonates.
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Dumoulin M, Pottel H, Mekahli D, Laenen A, Smits A, and Allegaert K
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- Humans, Infant, Newborn, Female, Male, Anti-Bacterial Agents adverse effects, Acute Kidney Injury chemically induced, Acute Kidney Injury diagnosis, Acute Kidney Injury blood, Creatinine blood, Ibuprofen adverse effects, Infant, Extremely Low Birth Weight, Vancomycin adverse effects, Pharmacovigilance, Amikacin adverse effects
- Abstract
Background: Extremely low birth weight (ELBW) neonates (birth weight ≤ 1000 g) are at high risk to develop drug-induced acute kidney injury (AKI). However, we lack a pragmatic detection tool to capture their time-dependent (patho)physiologic serum creatinine (Scr) patterns. Pottel et al. suggested rescaling Scr by dividing Scr with the mean Scr value of the age- and sex-specific reference population. We explored if this Pottel method can detect drug-related nephrotoxicity in ELBW neonates., Methods: A previously reported dataset on Scr changes in ELBW neonates exposed to ibuprofen, amikacin, or vancomycin was updated to calculate Pottel scores for every available Scr value in the first 28 postnatal days. We hereby used previously published postnatal age-specific 50
th centile values in an ELBW population. Linear mixed models were applied, analyzing Pottel scores as response variable and continuous time (day), drug exposure, and interaction thereof in the explanatory model., Results: Serum creatinine (n = 3231) observations in 201 ELBW neonates were collected. A statistically significant rise of Pottel scores was observed with ibuprofen starting from postnatal day 4. In addition, a cumulative effect of treatment with mean Pottel scores on day 0 of 1.020 and on day 3 during treatment of 1.106 (95% CI 1.068-1.145, p < 0.001) was observed, corrected for effect of antibiotics. Antibiotic administrations showed a small but statistically significant difference up to postnatal day 5., Conclusions: As rescaled Scr biomarker, the Pottel method showed a clear association with ibuprofen-exposed ELBW neonates, suggesting its applicability as a pragmatic bedside alternative tool to assess nephrotoxicity., (© 2024. The Author(s).)- Published
- 2024
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39. Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
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Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, and Valverde D
- Abstract
Four European Reference Networks (ERN-EYE, ERKNet, Endo-ERN, ERN-ITHACA) have teamed up to establish a consensus statement and recommendations for Bardet-Biedl syndrome (BBS). BBS is an autosomal recessive ciliopathy with at least 26 genes identified to date. The clinical manifestations are pleiotropic, can be observed in utero and will progress with age. Genetic testing has progressively improved in the last years prompting for a revision of the diagnostic criteria taking into account clinical Primary and Secondary features, as well as positive or negative molecular diagnosis. This consensus statement also emphasizes on initial diagnosis, monitoring and lifelong follow-up, and symptomatic care that can be provided to patients and family members according to the involved care professionals. For paediatricians, developmental anomalies can be at the forefront for diagnosis (such as polydactyly) but can require specific care, such as for associated neuro developmental disorders. For ophthalmology, the early onset retinal degeneration requires ad hoc functional and imaging technologies and specific care for severe visual impairment. For endocrinology, among other manifestations, early onset obesity and its complications has benefited from better evaluation of eating behaviour problems, improved lifestyle programs, and from novel pharmacological therapies. Kidney and urinary track involvements warrants lifespan attention, as chronic kidney failure can occur and early management might improve outcome. This consensus recommends revised diagnostic criteria for BBS that will ensure certainty of diagnosis, giving robust grounds for genetic counselling as well as in the perspective of future trials for innovative therapies., (© 2024. The Author(s).)
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- 2024
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40. Antenatal presentation and early postnatal treatment of infantile hypercalcemia type 2.
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Verjans M, Hindryckx A, Rosier K, Devriendt K, Mekahli D, and Bockenhauer D
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- Humans, Infant, Newborn, Female, Sodium-Phosphate Cotransporter Proteins, Type IIa genetics, Pregnancy, Exome Sequencing, Vitamin D3 24-Hydroxylase genetics, Nephrocalcinosis genetics, Nephrocalcinosis diagnosis, Male, Vitamin D blood, Vitamin D therapeutic use, Phosphates blood, Prenatal Diagnosis methods, Ultrasonography, Prenatal, Hypercalcemia genetics, Hypercalcemia diagnosis
- Abstract
Infantile hypercalcemia (IH) is a rare genetic disorder characterized by hypercalcemia, hypercalciuria, low parathyroid hormone, and nephrocalcinosis during the first months of life. Biallelic variants in the genes CYP24A1 and SCL34A1 cause IH1 and 2, respectively. We present the case of a newborn with an antenatal diagnosis of IH2 due to the identification of echogenic, yet normal-sized kidneys at 23 weeks gestation. Trio whole-exome sequencing initially identified only a heterozygous pathogenic variant in SLC34A1. Re-analysis of the exome data because of the clinical suspicion of IH2 revealed a 21-basepair deletion in trans that had initially been filtered out because of its high allele frequency. The diagnosis of IH2 enabled postnatal screening for hypercalcemia, present already at week 1, resulting in early treatment with phosphate supplementation and vitamin D avoidance. In the subsequent course, biochemical parameters were normalized, and the patient showed no obvious clinical complications of IH2, apart from the nephrocalcinosis., (© 2024. The Author(s), under exclusive licence to International Pediatric Nephrology Association.)
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- 2024
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41. Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group.
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Mekahli D, Müller RU, Marlais M, Wlodkowski T, Haeberle S, de Argumedo ML, Bergmann C, Breysem L, Fladrowski C, Henske EP, Janssens P, Jouret F, Kingswood JC, Lattouf JB, Lilien M, Maleux G, Rozenberg M, Siemer S, Devuyst O, Schaefer F, Kwiatkowski DJ, Rouvière O, and Bissler J
- Subjects
- Humans, Consensus, Angiomyolipoma genetics, Angiomyolipoma etiology, Practice Guidelines as Topic, Tuberous Sclerosis genetics, Tuberous Sclerosis therapy, Tuberous Sclerosis complications
- Abstract
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the presence of proliferative lesions throughout the body. Management of TSC is challenging because patients have a multifaceted systemic illness with prominent neurological and developmental impact as well as potentially severe kidney, heart and lung phenotypes; however, every organ system can be involved. Adequate care for patients with TSC requires a coordinated effort involving a multidisciplinary team of clinicians and support staff. This clinical practice recommendation was developed by nephrologists, urologists, paediatric radiologists, interventional radiologists, geneticists, pathologists, and patient and family group representatives, with a focus on TSC-associated kidney manifestations. Careful monitoring of kidney function and assessment of kidney structural lesions by imaging enable early interventions that can preserve kidney function through targeted approaches. Here, we summarize the current evidence and present recommendations for the multidisciplinary management of kidney involvement in TSC., (© 2024. Springer Nature Limited.)
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- 2024
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42. Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
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Buffin-Meyer B, Richard J, Guigonis V, Weber S, König J, Heidet L, Moussaoui N, Vu JP, Faguer S, Casemayou A, Prakash R, Baudouin V, Hogan J, Alexandrou D, Bockenhauer D, Bacchetta J, Ranchin B, Pruhova S, Zieg J, Lahoche A, Okorn C, Antal-Kónya V, Morin D, Becherucci F, Habbig S, Liebau MC, Mauras M, Nijenhuis T, Llanas B, Mekahli D, Thumfart J, Tönshoff B, Massella L, Eckart P, Cloarec S, Cruz A, Patzer L, Roussey G, Vrillon I, Dunand O, Bessenay L, Taroni F, Zaniew M, Louillet F, Bergmann C, Schaefer F, van Eerde AM, Schanstra JP, and Decramer S
- Abstract
Introduction: Hepatocyte nuclear factor 1-beta ( HNF1B ) gene variants or the chromosome 17q12 deletion (17q12del) represent the most common monogenic cause of developmental kidney disease. Although neurodevelopmental disorders have been associated with the 17q12del, specific genotype-phenotype associations with respect to kidney function evolution have not yet been fully defined. Here, we aimed to determine whether 17q12del or specific HNF1B variants were associated with kidney survival in a large patient population with HNF1B disease., Methods: This was a retrospective observational study involving 521 patients with HNF1B disease from 14 countries using the European Reference Network for rare kidney diseases with detailed information on the HNF1B genotype ( HNF1B variants or the 17q12del). Median follow-up time was 11 years with 6 visits per patient. The primary end point was progression to chronic kidney disease (CKD) stage 3 (estimated glomerular filtration rate [eGFR] < 60 ml/min per 1.73 m
2 ). Secondary end points were the development of hypomagnesemia or extrarenal disorders, including hyperuricemia and hyperglycemia., Results: Progression toward CKD stage 3 was significantly delayed in patients with the 17q12del compared to patients with HNF1B variants (hazard ratio [HR]: 0.29, 95% confidence interval [CI]: 0.19-0.44, P < 0.001). Progression toward CKD stage 3 was also significantly delayed when HNF1B variants involved the HNF1B Pit-1, Oct-1, and Unc-86 homeodomain (POUh ) DNA-binding and transactivation domains rather than the POU-specific domain (POUs ) DNA-binding domain (HR: 0.15 [95% CI: 0.06-0.37), P < 0.001 and HR: 0.25 (95% CI: 0.11-0.57), P = 0.001, respectively). Finally, the 17q12del was positively associated with hypomagnesemia and negatively associated with hyperuricemia, but not with hyperglycemia., Conclusion: Patients with the 17q12del display a significantly better kidney survival than patients with other HNF1B variants; and for the latter, variants in the POUs DNA-binding domain lead to the poorest kidney survival. These are clinically relevant HNF1B kidney genotype-phenotype correlations that inform genetic counseling., (© 2024 International Society of Nephrology. Published by Elsevier Inc.)- Published
- 2024
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43. Estimating risk of rapid disease progression in pediatric patients with autosomal dominant polycystic kidney disease: a randomized trial of tolvaptan.
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Mekahli D, Guay-Woodford LM, Cadnapaphornchai MA, Goldstein SL, Dandurand A, Jiang H, Jadhav P, and Debuque L
- Subjects
- Adolescent, Child, Humans, Antidiuretic Hormone Receptor Antagonists adverse effects, Disease Progression, Glomerular Filtration Rate, Kidney, Retrospective Studies, Polycystic Kidney, Autosomal Dominant complications, Polycystic Kidney, Autosomal Dominant drug therapy, Tolvaptan adverse effects
- Abstract
Background: Tolvaptan preserves kidney function in adults with autosomal dominant polycystic kidney disease (ADPKD) at elevated risk of rapid progression. A trial (NCT02964273) evaluated tolvaptan safety and pharmacodynamics in children (5-17 years). However, progression risk was not part of study eligibility criteria due to lack of validated criteria for risk assessment in children. As risk estimation is important to guide clinical management, baseline characteristics of the study participants were retrospectively evaluated to determine whether risk of rapid disease progression in pediatric ADPKD can be assessed and to identify parameters relevant for risk estimation., Methods: Four academic pediatric nephrologists reviewed baseline data and rated participant risk from 1 (lowest) to 5 (highest) based on clinical judgement and the literature. Three primary reviewers independently scored all cases, with each case reviewed by two primary reviewers. For cases with discordant ratings (≥ 2-point difference), the fourth reviewer provided a secondary rating blinded to the primary evaluations. Study participants with discordant ratings and/or for whom data were lacking were later discussed to clarify parameters relevant to risk estimation., Results: Of 90 evaluable subjects, primary reviews of 69 (77%) were concordant. The proportion considered at risk of rapid progression (final mean rating ≥ 3.5) by age group was: 15-17 years, 27/34 (79%); 12- < 15, 9/32 (28%); 4- < 12, 8/24 (33%). The panelists agreed on characteristics important for risk determination: age, kidney imaging, kidney function, blood pressure, urine protein, and genetics., Conclusions: High ratings concordance and agreement among reviewers on relevant clinical characteristics support the feasibility of pediatric risk assessment., (© 2023. The Author(s).)
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- 2024
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44. Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.
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Delafontaine S, Iannuzzo A, Bigley TM, Mylemans B, Rana R, Baatsen P, Poli MC, Rymen D, Jansen K, Mekahli D, Casteels I, Cassiman C, Demaerel P, Lepelley A, Frémond ML, Schrijvers R, Bossuyt X, Vints K, Huybrechts W, Tacine R, Willekens K, Corveleyn A, Boeckx B, Baggio M, Ehlers L, Munck S, Lambrechts D, Voet A, Moens L, Bucciol G, Cooper MA, Davis CM, Delon J, and Meyts I
- Subjects
- Child, Humans, Mutation, Syndrome, Golgi Apparatus genetics, Golgi Apparatus metabolism, Coatomer Protein genetics, Coat Protein Complex I genetics, Coat Protein Complex I metabolism
- Abstract
Mutations in the N-terminal WD40 domain of coatomer protein complex subunit α (COPA) cause a type I interferonopathy, typically characterized by alveolar hemorrhage, arthritis, and nephritis. We described 3 heterozygous mutations in the C-terminal domain (CTD) of COPA (p.C1013S, p.R1058C, and p.R1142X) in 6 children from 3 unrelated families with a similar syndrome of autoinflammation and autoimmunity. We showed that these CTD COPA mutations disrupt the integrity and the function of coat protein complex I (COPI). In COPAR1142X and COPAR1058C fibroblasts, we demonstrated that COPI dysfunction causes both an anterograde ER-to-Golgi and a retrograde Golgi-to-ER trafficking defect. The disturbed intracellular trafficking resulted in a cGAS/STING-dependent upregulation of the type I IFN signaling in patients and patient-derived cell lines, albeit through a distinct molecular mechanism in comparison with mutations in the WD40 domain of COPA. We showed that CTD COPA mutations induce an activation of ER stress and NF-κB signaling in patient-derived primary cell lines. These results demonstrate the importance of the integrity of the CTD of COPA for COPI function and homeostatic intracellular trafficking, essential to ER homeostasis. CTD COPA mutations result in disease by increased ER stress, disturbed intracellular transport, and increased proinflammatory signaling.
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- 2024
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45. A Population Model of Time-Dependent Changes in Serum Creatinine in (Near)term Neonates with Hypoxic-Ischemic Encephalopathy During and After Therapeutic Hypothermia.
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Krzyzanski W, Wintermark P, Annaert P, Groenendaal F, Şahin S, Öncel MY, Armangil D, Koc E, Battin MR, Gunn AJ, Frymoyer A, Chock VY, Keles E, Mekahli D, van den Anker J, Smits A, and Allegaert K
- Subjects
- Humans, Infant, Newborn, Creatinine, Glomerular Filtration Rate, Hypoxia-Ischemia, Brain therapy, Hypothermia, Induced, Acute Kidney Injury therapy
- Abstract
The objective was to apply a population model to describe the time course and variability of serum creatinine (sCr) in (near)term neonates with moderate to severe encephalopathy during and after therapeutic hypothermia (TH). The data consisted of sCr observations up to 10 days of postnatal age in neonates who underwent TH during the first 3 days after birth. Available covariates were birth weight (BWT), gestational age (GA), survival, and acute kidney injury (AKI). A previously published population model of sCr kinetics in neonates served as the base model. This model predicted not only sCr but also the glomerular filtration rate normalized by its value at birth (GFR/GFR
0 ). The model was used to compare the TH neonates with a reference full term non-asphyxiated population of neonates. The estimates of the model parameters had good precision and showed high between subject variability. AKI influenced most of the estimated parameters denoting a strong impact on sCr kinetics and GFR. BWT and GA were not significant covariates. TH transiently increased [Formula: see text] in TH neonates over the first days compared to the reference group. Asphyxia impacted not only GFR, but also the [Formula: see text] synthesis rate. We also observed that AKI neonates exhibit a delayed onset of postnatal GFR increase and have a higher [Formula: see text] synthesis rate compared to no-AKI patients. Our findings show that the use of [Formula: see text] as marker of renal function in asphyxiated neonates treated with TH to guide dose selection for renally cleared drugs is challenging, while we captured the postnatal sCr patterns in this specific population., (© 2023. The Author(s).)- Published
- 2023
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46. Low agreement between various eGFR formulae in pediatric and young adult ADPKD patients.
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Schellekens P, Verjans M, Janssens P, Dachy A, De Rechter S, Breysem L, Allegaert K, Bammens B, Vennekens R, Vermeersch P, Pottel H, and Mekahli D
- Subjects
- Humans, Child, Female, Male, Young Adult, Infant, Newborn, Infant, Child, Preschool, Adolescent, Adult, Glomerular Filtration Rate, Longitudinal Studies, Prospective Studies, Creatinine, Polycystic Kidney, Autosomal Dominant diagnosis, Polycystic Kidney, Autosomal Dominant genetics, Transition to Adult Care, Renal Insufficiency, Chronic
- Abstract
Background: Young autosomal dominant polycystic kidney disease (ADPKD) patients are becoming the new target population for the development of new treatment options. Determination of a reliable equation for estimated glomerular filtration rate (eGFR) from early stages is needed with the promising potential interventional therapies., Methods: Prospective and longitudinal study on a cohort of 68 genotyped ADPKD patients (age range 0-23 years) with long-term follow-up. Commonly used equations for eGFR were compared for their relative performance., Results: The revised Schwartz formula (CKiD) showed a highly significant decline in eGFR with aging (- 3.31 mL/min/1.73 m
2 /year, P < 0.0001). The recently updated equation by the Schwartz group (CKiDU25) showed a smaller (- 0.90 mL/min/1.73 m2 /year) but significant (P = 0.001) decline in eGFR with aging and also showed a significant sex difference (P < 0.0001), not observed by the other equations. In contrast, the full age spectrum (FAS) equations (FAS-SCr, FAS-CysC, and the combined) showed no age and sex dependency. The prevalence of hyperfiltration is highly dependent on the formula used, and the highest prevalence was observed with the CKiD Equation (35%)., Conclusions: The most widely used methods to calculate eGFR in ADPKD children (CKiD and CKiDU25 equations) were associated with unexpected age or sex differences. The FAS equations were age- and sex-independent in our cohort. Hence, the switch from the CKiD to CKD-EPI equation at the transition from pediatric to adult care causes implausible jumps in eGFR, which could be misinterpreted. Having reliable methods to calculate eGFR is indispensable for clinical follow-up and clinical trials. 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.)- Published
- 2023
- Full Text
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47. Illness-related parental stress and quality of life in children with kidney diseases.
- Author
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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
- Subjects
- 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.)
- Published
- 2023
- Full Text
- View/download PDF
48. Apelin is altered in subjects with autosomal dominant polycystic kidney disease and preserved kidney function.
- Author
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Janssens P, Cools W, de Mota N, Decuypere JP, Torres V, Wissing KM, Vennekens R, Bammens B, Llorens-Cortes C, and Mekahli D
- Subjects
- Humans, Apelin, Kidney diagnostic imaging, Polycystic Kidney, Autosomal Dominant genetics
- Published
- 2023
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- View/download PDF
49. Leukopenia in autosomal dominant polycystic kidney disease: a single-center cohort of kidney transplant candidates with post-transplantation follow-up.
- Author
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Schellekens P, Van Loon E, Coemans M, Meyts I, Vennekens R, Kuypers D, Mekahli D, and Bammens B
- Abstract
Background: Autosomal dominant polycystic kidney disease (ADPKD) has occasionally been associated with lower peripheral white blood cell (WBC) counts. This study aimed to investigate the peripheral blood cell counts in a large cohort of kidney transplant recipients before and after kidney transplantation and its potential impact on post-transplant outcomes., Methods: This was a retrospective study with long-term follow-up data of 2090 patients who underwent a first kidney transplantation in the Leuven University Hospitals, of whom 392 had ADPKD., Results: In total, 2090 patients who underwent a first kidney transplantation in the Leuven University Hospitals were included, of whom 392 had ADPKD. Both pre- and post-transplantation, ADPKD patients had significantly lower total WBC counts, and more specifically lower neutrophil, lymphocyte and eosinophil counts compared with the non-ADPKD patients. This observation was independent of potential confounders such as level of inflammation, smoking habit, vitamins and pre-transplant medication. Overall survival and kidney transplant survival were significantly better in ADPKD vs non-ADPKD transplant recipients and a longer time to first infection was observed. However, no association between blood cell counts and outcome differences was found., Conclusions: In conclusion, this large single-center study reports a strong and independent association between ADPKD and lower peripheral WBC counts both before and after kidney transplantation. Considering the role of inflammation in disease progression, further investigation into the role of WBC in ADPKD is needed., Competing Interests: The research activities described in this manuscript are supported by Otsuka and Sanofi. Pieter Schellekens is supported by the Research Foundation Flanders (F.W.O.). EVL, holds a fellowship grant (1143919N) from The Research Foundation Flanders (F.W.O). DM reports research grants from Otsuka and serves in advisory boards for Otsuka, Sanofi Genzyme and Reata, all outside the submitted work and all paid to her institutions UZ Leuven and KU Leuven, Belgium., (© The Author(s) 2023. Published by Oxford University Press on behalf of the ERA.)
- Published
- 2023
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50. Standardized 4-point scoring scale of [ 18 F]-FDG PET/CT imaging helps in the diagnosis of renal and hepatic cyst infections in patients with autosomal dominant polycystic kidney disease: a validation cohort.
- Author
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Demuynck S, Lovinfosse P, Seidel L, Jentjens S, Mekahli D, Jouret F, Bammens B, and Goffin K
- Abstract
Background: Autosomal dominant polycystic kidney disease (ADPKD) is prone to multiple complications, including cyst infection (CyI). 2-Deoxy-2-[
18 F]fluoro-d-glucose positron emission tomography/computed tomography ([18 F]-FDG PET/CT) imaging has proved useful in the diagnosis of renal and hepatic CyI. A 4-point scale comparing the uptake of [18 F]-FDG in the suspected infected cyst versus the hepatic physiological background has been recently proposed. We performed an independent validation of this semi-quantitative scoring system., Methods: All ADPKD patients hospitalized between January 2009 and November 2019 who underwent an [18 F]-FDG PET/CT for suspected CyI were retrospectively identified using computer-based databases. Medical files were reviewed. CyI was conventionally defined by the combination of fever (≥38°C), abdominal pain, increased plasma C-reactive protein levels (≥70 mg/L), absence of any other cause of inflammation and favourable outcome after ≥21 days of antibiotics. [18 F]-FDG uptake of the suspected CyI was evaluated using a 4-point scale comparing the uptake of [18 F]-FDG around the infected cysts with the uptake in the hepatic parenchyma. Statistics were performed using SAS version 9.4., Results: Fifty-one [18 F]-FDG PET/CT scans in 51 patients were included, of which 11 were cases of CyI. The agreement between the 4-point scale and the gold-standard criteria of CyI was significant [odds ratio of 6.03 for CyI in case of a score ≥3 ( P = .014)]. The corresponding sensitivity, specificity, and positive and negative predictive values of [18 F]-FDG PET/CT using the 4-point scale were 64% [Clopper-Pearson 95% confidence interval (CI) 30%-89%], 78% (95% CI 62%-89%), 44% (95% CI 20%-70%) and 89% (95% CI 73%-97%), respectively., Conclusions: Our independent validation cohort confirms the use of a semi-quantitative 4-point scoring system of [18 F]-FDG PET/CT imaging in the diagnosis of CyI in patients with ADPKD. Considering its performance metrics with high specificity and negative predictive value, the scoring system is particularly useful to distinguish other causes of clinical inflammation than CyI and as such avoid unnecessarily long antibiotic treatment., Competing Interests: None declared., (© The Author(s) 2023. Published by Oxford University Press on behalf of the ERA.)- Published
- 2023
- Full Text
- View/download PDF
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