113 results on '"Habbig S"'
Search Results
2. Timing and Modality of Kidney Replacement Therapy in Children and Adolescents
- Author
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Cortina, G., Arbeiter, K., Dusek, J., Harambat, J., Ranchin, B., Fischbach, M., Querfeld, U., Habbig, S., Galiano, M., Büscher, R., Gimpel, C., Kemper, M., Melk, A., Thurn, D., Schaefer, F., Doyon, A., Wühl, E., Pohl, M., Wygoda, S., Jeck, N., Kranz, B., Wigger, M., Montini, G., Lugani, F., Testa, S., Vidal, E., Matteucci, C., Picca, S., Jankauskiene, A., Azukaitis, K., Zurowska, A., Drodz, D., Tkaczyk, M., Urasinski, T., Litwin, M., Szczepanska, M., Texeira, A., Peco-Antic, A., Bucher, B., Laube, G., Anarat, A., Bayazit, A.K., Yalcinkaya, F., Basin, E., Cakar, N., Soylemezoglu, O., Duzova, A., Bilginer, Y., Erdogan, H., Donmez, O., Balat, A., Kiyak, A., Caliskan, S., Canpolat, N., Candan, C., Civilibal, M., Emre, S., Ozcelik, G., Mir, S., Sözeri, B., Yavascan, O., Tabel, Y., Ertan, P., Yilmaz, E., Shroff, R., Thumfart, Julia, Wagner, Steffen, Kirchner, Marietta, Azukaitis, Karolis, Bayazit, Aysun K., Obrycki, Lukasz, Canpolat, Nur, Bulut, Ipek Kaplan, Duzova, Ali, Anarat, Ali, Bessenay, Lucie, Shroff, Rukshana, Paripovic, Dusan, Sever, Lale, Candan, Cengiz, Lugani, Francesca, Yilmaz, Alev, Yalcinkaya, Fatos, Arbeiter, Klaus, Kiyak, Aysel, Zurowska, Aleksandra, Galiano, Matthias, Querfeld, Uwe, Melk, Anette, and Schaefer, Franz
- Published
- 2024
- Full Text
- View/download PDF
3. Postnatal surgical treatment and complications following intrauterine vesicoamniotic shunting with the SOMATEX® intrauterine shunt. A single center experience
- Author
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Kohaut, J., Fischer-Mertens, J., Cernaianu, G., Schulten, D., Holtkamp, G., Kohl, S., Habbig, S., Klein, R., Kribs, A., Gottschalk, I., Berg, C., and Dübbers, M.
- Published
- 2023
- Full Text
- View/download PDF
4. Timing and modality of kidney replacement therapy in children and adolescents
- Author
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Thumfart, Julia, primary, Wagner, Steffen, additional, Kirchner, Marietta, additional, Azukaitis, Karolis, additional, Bayazit, Aysun K., additional, Obrycki, Lukasz, additional, Canpolat, Nur, additional, Bulut, Ipek Kaplan, additional, Duzova, Ali, additional, Anarat, Ali, additional, Bessenay, Lucie, additional, Shroff, Rukshana, additional, Paripovic, Dusan, additional, Sever, Lale, additional, Candan, Cengiz, additional, Lugani, Francesca, additional, Yilmaz, Alev, additional, Yalcinkaya, Fatos, additional, Arbeiter, Klaus, additional, Kiyak, Aysel, additional, Zurowska, Aleksandra, additional, Galiano, Matthias, additional, Querfeld, Uwe, additional, Melk, Anette, additional, Schaefer, Franz, additional, Cortina, G., additional, Arbeiter, K., additional, Dusek, J., additional, Harambat, J., additional, Ranchin, B., additional, Fischbach, M., additional, Zalosczyk, A., additional, Querfeld, U., additional, Habbig, S., additional, Galiano, M., additional, Büscher, R., additional, Gimpel, C., additional, Kemper, M., additional, Melk, A., additional, Thurn, D., additional, Schaefer, F., additional, Doyon, A., additional, Wühl, E., additional, Pohl, M., additional, Wygoda, S., additional, Jeck, N., additional, Kranz, B., additional, Wigger, M., additional, Montini, G., additional, Lugani, F., additional, Testa, S., additional, Vidal, E., additional, Matteucci, C., additional, Picca, S., additional, Jankauskiene, A., additional, Azukaitis, K., additional, Zurowska, A., additional, Drodz, D., additional, Tkaczyk, M., additional, Urasinski, T., additional, Litwin, M., additional, Niemirska, A., additional, Szczepanska, M., additional, Texeira, A., additional, Peco-Antic, A., additional, Bucher, B., additional, Laube, G., additional, Anarat, A., additional, Bayazit, A.K., additional, Yalcinkaya, F., additional, Basin, E., additional, Cakar, N., additional, Soylemezoglu, O., additional, Duzova, A., additional, Bilginer, Y., additional, Erdogan, H., additional, Donmez, O., additional, Balat, A., additional, Kiyak, A., additional, Caliskan, S., additional, Canpolat, N., additional, Candan, C., additional, Civilibal, M., additional, Emre, S., additional, Alpay, H., additional, Ozcelik, G., additional, Mir, S., additional, Sözeri, B., additional, Yavascan, O., additional, Tabel, Y., additional, Ertan, P., additional, Yilmaz, E., additional, and Shroff, R., additional
- Published
- 2024
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5. Diabetes mellitus als mögliche Spätmanifestation eines hämolytisch-urämischen Syndroms
- Author
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Horch, Lea, Weber, L. T., Rehberg, M., Schäuble, J., Habbig, S., and Ludwig, Karl-Heinz
- Published
- 2020
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6. Management von Ziliopathien im Kindes- und Jugendalter
- Author
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König, J., Habbig, S., and Liebau, M. C.
- Published
- 2019
- Full Text
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7. Single-center outcome analysis of 46 fetuses with megacystis after intrauterine vesico-amniotic shunting with the Somatex®intrauterine shunt
- Author
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Gottschalk, I., primary, Berg, C., additional, Menzel, T., additional, Abel, J. S., additional, Kribs, A., additional, Dübbers, M., additional, Kohaut, J., additional, Weber, L. T., additional, Taylan, C., additional, Habbig, S., additional, Liebau, M. C., additional, Boemers, T. M., additional, and Weber, E. C., additional
- Published
- 2023
- Full Text
- View/download PDF
8. Erhöhtes ESRD-Risiko nach Nierenerkrankung im Kindesalter: Trotz klinischer und laborchemischer kompletter Remission einer pädiatrischen Nierenerkrankung besteht im Erwachsenenalter ein erhöhtes Risiko für ein terminales Nierenversagen
- Author
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Habbig, S.
- Published
- 2019
- Full Text
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9. None fits all: Unraveling structural rearrangements of the CFH gene cluster in aHUS patients using molecular combing and long fragment targeted sequencing
- Author
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Tschernoster, N., Erger, F., Walsh, P., McNicholas, B., Fistrek, M., Habbig, S., Schumacher, A., Folz-Donahue, K., Kukat, C., Toliat, M., Becker, C., Thiele, H., Kavanagh, D., Nuernberg, P., Beck, B., and Altmuller, J.
- Abstract
Complement factor H (CFH) and its related proteins have an essential role in regulating the alternative pathway of the complement system. Mutations and structural variants (SVs) of the CFH gene cluster, consisting of CFH and its five related genes (CFHR1-5), have been reported in renal pathologies as well as in complex immune diseases like age-related macular degeneration and systemic lupus erythematosus. SV analysis of this cluster is challenging due to its high degree of sequence homology. Following first-line NGS gene panel sequencing, we applied Genomic Vision's Molecular Combing Technology, to detect and visualize SVs within the CFH gene cluster and resolve its structural haplotypes completely. This approach was tested in three patients with atypical hemolytic uremic syndrome (aHUS) and known SVs, and 18 patients with aHUS or complement factor 3 glomerulopathy with unknown CFH gene cluster haplotypes. Three SVs, a CFH/CFHR1 hybrid gene in two patients and a rare heterozygous CFHR4/CFHR1 deletion in trans with the common CFHR3/CFHR1 deletion in a third patient were newly identified. For the latter, the breakpoints were determined using a targeted enrichment approach for long DNA fragments (Samplix Xdrop) in combination with Oxford Nanopore sequencing. Molecular combing in addition to NGS was able to improve the molecular genetic yield in this pilot study. This (cost-)effective approach warrants validation in larger cohorts with CFH/CFHR-associated disease.
- Published
- 2022
10. Langzeitdaten von zwei Schwestern mit C3-Glomerulonephritis (C3-GN) aufgrund einer homozygoten CFH-Mutation und Auto-Antikörpern
- Author
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Hackl, A., primary, Erger, F., additional, Skerka, C., additional, Wenzel, A., additional, Tschernoster, N., additional, Ehren, R., additional, Burgmaier, K., additional, Riehmer, V., additional, Licht, C., additional, Kirschfink, M., additional, Weber, L.T., additional, Altmueller, J., additional, Zipfel, P.F., additional, and Habbig, S., additional
- Published
- 2021
- Full Text
- View/download PDF
11. Effects of nutritional Vitamin D supplementation on markers of bone and mineral metabolism in children with chronic kidney disease
- Author
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Cakar, N., Basin, E., Yalcinkaya, F., KARABAY BAYAZIT, AYSUN, Anarat, A., Laube, G., Bucher, B., Peco-Antic, A., Texeira, A., Donmez, O., Balat, A., Szczepanska, M., Niemirska, A., Litwin, M., Urasinski, T., Tkaczyk, M., Kiyak, A., Drodz, D., Zurowska, A., Azukaitis, K., Jankauskiene, A., Picca, S., Matteucci, C., Vidal, E., Testa, S., Lugani, F., Montini, G., Wigger, M., Kranz, B., Jeck, N., Wygoda, S., Pohl, M., Wuehl, E., Doyon, A., Schaefer, F., Thurn, D., Melk, A., Kemper, M., ÇALIŞKAN, Salim, Gimpel, C., Buescher, R., Galiano, M., Habbig, S., Querfeld, U., Zalosczyk, A., Fischbach, M., Ranchin, B., Harambat, J., Canpolat, N., Dusek, J., Arbeiter, K., Cortina, G., Haffner, Dieter, Candan, C., Schaefer, Franz, Sander, Anja, Leifheit-Nestler, Maren, Civilibal, M., Querfeld, Uwe, Melk, Anette, Rosales, Alejandra, Candan, Cengiz, Soylemezoglu, Oguz, Zaloszyc, Ariane, Habbig, Sandra, ALPAY, HARİKA, Emre, S., Alpay, H., Ozcelik, G., Kiyak, Aysel, Harambat, Jerome, Mir, S., Sozeri, B., Yalcinkaya, Fatos, Yilmaz, Ebru, Azukaitis, Karolis, Yavascan, O., DÜZOVA, ALİ, CANPOLAT, Nur, Niemirska, Anna, Tabel, Y., Ertan, P., Thurn, Daniela, KAPLAN BULUT, İPEK, Lerch, Christian, Yilmaz, E., Prytula, A., Bachetta, J., Haffner, D., Klaus, G., Gessner, M., Schmitt, C. P., Stabouli, S., Reusz, G., Verrina, E., Groothoff, J., Tondel, C., Gamero, M. A., Petrosyan, E., Dursun, I., Erdogan, H., Bilginer, Y., Soylemezoglu, O., Shroff, Rukshana, Shroff, R., Wan, Mandy, Bakkaloglu, SEVCAN AZİME, Aitkenhead, Helen, Rees, Lesley, Çukurova Üniversitesi, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, Paediatric Nephrology, AGEM - Inborn errors of metabolism, APH - Quality of Care, APH - Methodology, Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School Children's Hospital, Hannover, Germany, Renal Unit, Great Ormond Street Hospital for Children, London, United Kingdom, Department of Chemical Pathology, Great Ormond Street Hospital for Children, London, United Kingdom, Department of Pediatric Nephrology, Ege University, Bornova, Izmir, Turkey, Department of Pediatric Nephrology, Faculty of Medicine, Cukurova University, Adana, Turkey, Department of Nephrology, Kidney Transplantation and Arterial Hypertension, Children's Memorial Health Institute, Warsaw, Poland, Department of Pediatrics, Istanbul University Cerrahpasa, Faculty of Medicine, Istanbul, Turkey, Division of Pediatric Nephrology, Hacettepe University, Faculty of Medicine, Ankara, Turkey, Clinic of Pediatrics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania, Department of Pediatric Nephrology, Sanliurfa Children's Hospital, Sanliurfa, Turkey, Department of Pediatric Nephrology, School of Medicine, Ankara University, Ankara, Turkey, Department of Pediatrics, Bordeaux University Hospital, Bordeaux, France, Department of Pediatric Nephrology, Yenimahalle Egitim ve Arastirma Hastanesi Bakirkoy, Istanbul, Turkey, Department of Pediatric Nephrology, Marmara University School of Medicine, Istanbul, Turkey, Division of Pediatric Nephrology, University Children's, Adolescent's Hospital, Cologne, Germany, Pole Médico-Chirurgical de Pédiatrie, Service de Pédiatrie I, Hôpitaux Universitaires de Strasbourg, Strasbourg, France, Department of Pediatric Nephrology, Gazi University Hospital, Ankara, Turkey, Department of Pediatric Nephrology, Göztepe Egitim ve Arastirma Hastanesi, Cocuk Klinigi, Göztepe, Istanbul, Turkey, Department of Pediatrics, Innsbruck Medical University, Innsbruck, Austria, Clinic of Pediatric Nephrology, Charite Children's Hospital, Berlin, Germany, Institute of Medical Biometry and Informatics, University Heidelberg, Heidelberg, Germany, Division of Pediatric Nephrology, Heidelberg, Germany, Children's Hospital, Innsbruck, Austria, University Children's Hospital, Vienna, Austria, University Hospital Motol, Prague, Czech Republic, Hôpital des Enfants, Bordeaux, France, Hôpital Femme Mère Enfant, Université de Lyon, France, Hôpital de Hautepierre, Strasbourg, France, Charité Children's Hospital, Berlin, Germany, University Children's Hospital, Cologne, Germany, University Children's Hospital, Erlangen, Germany, University Children's Hospital, Essen, Germany, Center for Pediatrics and Adolescent Medicine, Freiburg, Germany, UKE University Children's Hospital, Hamburg, Germany, Hannover Medical School, Hannover, Germany, Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany, Center for Pediatrics and Adolescent Medicine, Jena, Germany, City Hospital St. Georg, Leipzig, Germany, KfH Kidney Center for Children, Marburg, Germany, University Children's Hospital, Münster, Germany, Children's Hospital, Rostock, Germany, S. Orsola-Malpighi Hospital, Bologna, Italy, Istituto Giannina Gaslini, Genova, Italy, Fondazione Ospedale Maggiore Policlinico, Milano, Italy, Pediatric Nephrology, Dialysis and Transplant Unit, Padova, Italy, Ospedale Bambino Gesú, Rome, Italy, University Children's Hospital, Vilnius, Lithuania, Pediatric and Adolescent Nephrology, Gdansk, Poland, University Children's Hospital, Krakow, Poland, Polish Mothers Memorial Hospital Research Institute, Lodz, Poland, Clinic of Pediatrics, Szczecin, Poland, Children's Memorial Health Institute, Warsaw, Poland, Zabrze, Poland, Hospital Sao Joao, Porto, Portugal, University Children's Hospital, Belgrade, Serbia, Inselspital, Bern, Switzerland, University Children's Hospital, Zurich, Switzerland, Cukurova University, Adana, Turkey, University Faculty of Medicine, Ankara, Turkey, Baskent University, Faculty of Medicine, Ankara, Turkey, Diskapi Children's Hospital, Ankara, Turkey, Gazi University Hospital, Ankara, Turkey, Hacettepe Medical Faculty, Ankara, Turkey, Dortcelik Children's Hospital, Bursa, Turkey, Uludag University, Bursa, Turkey, University of Gaziantep, Turkey, Bakirkoy Children's Hospital, Istanbul, Turkey, Istanbul University Cerrahpasa, Faculty of Medicine, Istanbul, Turkey, Goztepe Educational and Research Hospital, Istanbul, Turkey, Haseki Educational and Research Hospital, Istanbul, Turkey, Istanbul Medical Faculty, Istanbul, Turkey, Marmara University Medical Faculty, Istanbul, Turkey, Sisli Educational and Research Hospital, Istanbul, Turkey, Ege University Medical Faculty, Izmir, Turkey, Tepecik Training and Research Hospital, Izmir, Turkey, Inonu University, Malatya, Turkey, Celal Bayar University, Manisa, Turkey, Ghent University, Utopaed, Belgium, University Children's Hospital, Lyon, France, University Children's Hospital, Marburg, Germany, University Children's Hospital, Tübingen, Germany, University Children's Hospital, Thessaloniki, Greece, Semmelweis University, Budapest, Hungary, G. Gaslini Institute, Genoa, Italy, Academic Medical Center, Amsterdam, Netherlands, University Children's Hospital, Bergen, Norway, Reina Sofia Universitary Hospital, Cordoba, Spain, Russian National Research Medical University, Moscow, Russian Federation, Erciyes University, Faculty of Medicine, Kayseri, Turkey, Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., Dönmez, Osman, AAA-8778-2021, Lerch, Christian, Shroff, Rukshana, Wan, Mandy, Rees, Lesley, Aitkenhead, Helen, Bulut, Ipek Kaplan, Thurn, Daniela, Bayazit, Aysun Karabay, Niemirska, Anna, Canpolat, Nur, Duzova, Ali, Azukaitis, Karolis, Yilmaz, Ebru, Yalcinkaya, Fatos, Harambat, Jerome, Kiyak, Aysel, Alpay, Harika, Habbig, Sandra, Zaloszyc, Ariane, Soylemezoglu, Oguz, Candan, Cengiz, Rosales, Alejandra, Melk, Anette, Querfeld, Uwe, Leifheit-Nestler, Maren, Sander, Anja, Schaefer, Franz, Haffner, Dieter, Cortina, G., Arbeiter, K., Dusek, J., Harambat, J., Ranchin, B., Fischbach, M., Zalosczyk, A., Querfeld, U., Habbig, S., Galiano, M., Buescher, R., Gimpel, C., Kemper, M., Melk, A., Thurn, D., Schaefer, F., Doyon, A., Wuehl, E., Pohl, M., Wygoda, S., Jeck, N., Kranz, B., Wigger, M., Montini, G., Lugani, F., Testa, S., Vidal, E., Matteucci, C., Picca, S., Jankauskiene, A., Azukaitis, K., Zurowska, A., Drodz, D., Tkaczyk, M., Urasinski, T., Litwin, M., Niemirska, A., Szczepanska, M., Texeira, A., Peco-Antic, A., Bucher, B., Laube, G., Anarat, A., Bayazit, A. K., Yalcinkaya, F., Basin, E., Cakar, N., Soylemezoglu, O., Duzova, A., Bilginer, Y., Erdogan, H., Donmez, O., Balat, A., Kiyak, A., Caliskan, S., Canpolat, N., Candan, C., Civilibal, M., Emre, S., Alpay, H., Ozcelik, G., Mir, S., Sozeri, B., Yavascan, O., Tabel, Y., Ertan, P., Yilmaz, E., Shroff, R., Prytula, A., Bachetta, J., Haffner, D., Klaus, G., Gessner, M., Schmitt, C. P., Stabouli, S., Reusz, G., Verrina, E., Groothoff, J., Tondel, C., Gamero, M. A., Petrosyan, E., Bakkaloglu, S. A., and Dursun, I.
- Subjects
Male ,Fibroblast growth factor 23 ,Comorbidity ,urologic and male genital diseases ,Dietary supplement ,0302 clinical medicine ,Chronic kidney disease ,Chronic ,Child ,Klotho ,Children ,Clinical outcome ,Serum sclerostin ,Double blind procedure ,Vitamins ,Multicenter study ,female genital diseases and pregnancy complications ,3. Good health ,Clinical trial ,Bone and mineral metabolism ,Vitamin D deficiency ,Vitamin D supplementation ,Adolescent ,Alkaline Phosphatase ,Biomarkers ,Bone Density ,Double-Blind Method ,Female ,Fibroblast Growth Factors ,Follow-Up Studies ,Glomerular Filtration Rate ,Humans ,Renal Insufficiency, Chronic ,Vitamin D ,Dietary Supplements ,Blood ,Randomized controlled trial ,Nephrology ,Cohort analysis ,Human ,medicine.medical_specialty ,Mineral metabolism ,Sclerostin ,Clinical article ,Diet supplementation ,Article ,vitamin D deficiency ,Ergocalciferol ,03 medical and health sciences ,Cholecalciferol supplementation ,CKD ,Vitamin D and neurology ,Follow up ,medicine.disease ,Renal-failure ,Clinical effectiveness ,Endocrinology ,chemistry ,School child ,Chronic kidney failure ,Physiology ,Beta Glucuronidase ,Klotho Protein ,Chronic Kidney Disease-Mineral and Bone Disorder ,Fibroblast growth factor ,030232 urology & nephrology ,Medizin ,030204 cardiovascular system & hematology ,Growth-factor 23 ,chemistry.chemical_compound ,Randomized controlled trial (topic) ,Urology & nephrology ,Estimated glomerular filtration rate ,Renal Insufficiency ,Alpha-klotho ,Protein expression level ,Vitamin supplementation ,Priority journal ,Double-blind ,Klotho protein ,Glomerulus filtration rate ,medicine.drug ,Vitamin ,Bone metabolism ,Pathophysiology ,Hemodialysis-patients ,Internal medicine ,medicine ,Renal insufficiency, chronic ,FGF-23 ,Transplantation ,business.industry ,Alkaline phosphatase bone isoenzyme ,Fibroblast Growth Factor-23 ,Biological marker ,Metabolism ,business ,Controlled study ,Kidney disease - Abstract
PubMedID: 29481636 Background: We investigated the effects of nutritional vitamin D supplementation on markers of bone and mineral metabolism, i.e. serum levels of fibroblast growth factor 23(FGF23), Klotho, bone alkaline phosphatase (BAP) and sclerostin, in two cohorts with chronic kidney disease (CKD). Methods: In all, 80 vitamin D-deficient children were selected: 40 with mild to moderate CKD from the ERGO study, a randomized trial of ergocalciferol supplementation [estimated glomerular filtration rate (eGFR) 55 mL/min/1.73 m 2 ], and 40 with advanced CKD from the observational Cardiovascular Comorbidity in Children with Chronic Kidney Disease (4C) study (eGFR 24 mL/min/1.73 m 2 ). In each study, vitamin D supplementation was started in 20 children and 20 matched children not receiving vitamin D served as controls. Measures were taken at baseline and after a median period of 8 months. Age- and gender-related standard deviation scores (SDSs) were calculated. Results: Before vitamin D supplementation, children in the ERGO study had normal FGF23 (median 0.31 SDS) and BAP (-0.10 SDS) but decreased Klotho and sclerostin (-0.77 and - 1.04 SDS, respectively), whereas 4C patients had increased FGF23 (3.87 SDS), BAP (0.78 SDS) and sclerostin (0.76 SDS) but normal Klotho (-0.27 SDS) levels. Vitamin D supplementation further increased FGF23 in 4C but not in ERGO patients. Serum Klotho and sclerostin normalized with vitamin D supplementation in ERGO but remained unchanged in 4C patients. BAP levels were unchanged in all patients. In the total cohort, significant effects of vitamin D supplementation were noted for Klotho at eGFR 40-70mL/min/1.73m 2 . Conclusions: Vitamin D supplementation normalized Klotho and sclerostin in children with mild to moderate CKD but further increased FGF23 in advanced CKD. © The Author(s) 2018. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. American Society of Pediatric Nephrology: ESPN 2014.3 This work was supported by the European Society for Pediatric Nephrology (reference number ESPN 2014.3), KfH Foundation for Preventive Medicine and ERA-EDTA (to D.H.).
- Published
- 2018
12. Pediatr Nephrol
- Author
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HOLLE, J., QUERFELD, U., KIRCHNER, M., ANNINOS, A., OKUN, J., THURN-VALSASSINA, D., BAYAZIT, A., NIEMIRSKA, A., CANPOLAT, N., BULUT, I. K., DUZOVA, A., ANARAT, A., SHROFF, R., BILGINER, Y., CALISKAN, S., CANDAN, C., HARAMBAT, Jerome, OZCAKAR, Z. B., SOYLEMEZOGLU, O., TSCHUMI, S., HABBIG, S., YILMAZ, E., BALAT, A., ZUROWSKA, A., CAKAR, N., KRANZ, B., ERTAN, P., MELK, A., AZUKAITIS, K., and SCHAEFER, F.
- Published
- 2019
13. Effects of nutritional vitamin D supplementation on markers of bone and mineral metabolism in children with chronic kidney disease
- Author
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Lerch, C., Shroff, R., Wan, M., Rees, L., AITKENHEAD, H., KAPLAN BULUT, I., THURN, D., KARABAY BAYAZIT, A., NIEMIRSKA, A., CANPOLAT, N., DUZOVA, A., AZUKAITIS, K., Yilmaz, E., Yalcinkaya, F., HARAMBAT, Jérôme, KIYAK, A., ALPAY, H., HABBIG, S., ZALOSZYC, A., SOYLEMEZOGLU, O., CANDAN, C., Rosales, A., MELK, A., QUERFELD, U., LEIFHEIT-NESTLER, M., Sander, A., Schaefer, F., HAFFNER, D., Bordeaux population health (BPH), and Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM)
- Subjects
[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie ,urologic and male genital diseases ,female genital diseases and pregnancy complications ,LEHA - Abstract
Background: We investigated the effects of nutritional vitamin D supplementation on markers of bone and mineral metabolism, i.e. serum levels of fibroblast growth factor 23 (FGF23), Klotho, bone alkaline phosphatase (BAP) and sclerostin, in two cohorts with chronic kidney disease (CKD). Methods: In all, 80 vitamin D-deficient children were selected: 40 with mild to moderate CKD from the ERGO study, a randomized trial of ergocalciferol supplementation [estimated glomerular filtration rate (eGFR) 55 mL/min/1.73 m2], and 40 with advanced CKD from the observational Cardiovascular Comorbidity in Children with Chronic Kidney Disease (4C) study (eGFR 24 mL/min/1.73 m2). In each study, vitamin D supplementation was started in 20 children and 20 matched children not receiving vitamin D served as controls. Measures were taken at baseline and after a median period of 8 months. Age- and gender-related standard deviation scores (SDSs) were calculated. Results: Before vitamin D supplementation, children in the ERGO study had normal FGF23 (median 0.31 SDS) and BAP (-0.10 SDS) but decreased Klotho and sclerostin (-0.77 and -1.04 SDS, respectively), whereas 4C patients had increased FGF23 (3.87 SDS), BAP (0.78 SDS) and sclerostin (0.76 SDS) but normal Klotho (-0.27 SDS) levels. Vitamin D supplementation further increased FGF23 in 4C but not in ERGO patients. Serum Klotho and sclerostin normalized with vitamin D supplementation in ERGO but remained unchanged in 4C patients. BAP levels were unchanged in all patients. In the total cohort, significant effects of vitamin D supplementation were noted for Klotho at eGFR 40-70 mL/min/1.73 m2. Conclusions: Vitamin D supplementation normalized Klotho and sclerostin in children with mild to moderate CKD but further increased FGF23 in advanced CKD.
- Published
- 2018
14. Erhöhtes ESRD-Risiko nach Nierenerkrankung im Kindesalter
- Author
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Habbig, S., primary
- Published
- 2018
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- View/download PDF
15. Extrarenal Manifestations in Shigatoxin-associated Haemolytic Uremic Syndrome
- Author
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Matthies, J., additional, Hünseler, C., additional, Ehren, R., additional, Volland, R., additional, Körber, F., additional, Hoppe, B., additional, Weber, L., additional, and Habbig, S., additional
- Published
- 2016
- Full Text
- View/download PDF
16. The individualized, accompanied transition program 'TraiN' for adolescent kidney patients – a local initiative
- Author
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Collette Paula, Klein Luisa C., Körner Lisa M., Ernst Gundula, Brengmann Sandra, Schäuble Julian, Habbig Sandra, and Weber Lutz T.
- Subjects
adolescence ,patient education ,pediatric nephrology ,transition ,Pediatrics ,RJ1-570 - Abstract
Since the transition from pediatric and adolescent to adult care often proceeds unaccompanied and unplanned, young patients with chronic kidney disease may experience health risks and non-adherence after the transfer. The psychosocial team at the Department of Pediatric Nephrology at the University Hospital of Cologne has therefore developed its local transition program “TraiN” for patients with chronic kidney disease aged 13 years and older. It combines structure and flexibility through predefined content modules that can be individually adapted to the patients, offering continuity and sustainability through a transition contact person. In addition, the family members are offered regular psychological consultations. The timing of the transfer is chosen individually depending on the level of psychosocial and medical transition readiness. The aim of “TraiN” is to strengthen the patients’ transition competence and the responsibility for their disease management and to provide them and their families the best possible support during the transition in order to prevent possible health risks. In the near future, a scientific evaluation will be conducted aiming to determine whether “TraiN” can support young people in their independence and self-reliant disease management.
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- 2021
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17. Liver cell transplantation in severe infantile oxalosis--a potential bridging procedure to orthotopic liver transplantation?
- Author
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Beck, B. B., primary, Habbig, S., additional, Dittrich, K., additional, Stippel, D., additional, Kaul, I., additional, Koerber, F., additional, Goebel, H., additional, Salido, E. C., additional, Kemper, M., additional, Meyburg, J., additional, and Hoppe, B., additional
- Published
- 2012
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18. Long-term follow-up after rituximab for steroid-dependent idiopathic nephrotic syndrome
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Kemper, M. J., primary, Gellermann, J., additional, Habbig, S., additional, Krmar, R. T., additional, Dittrich, K., additional, Jungraithmayr, T., additional, Pape, L., additional, Patzer, L., additional, Billing, H., additional, Weber, L., additional, Pohl, M., additional, Rosenthal, K., additional, Rosahl, A., additional, Mueller-Wiefel, D. E., additional, and Dotsch, J., additional
- Published
- 2011
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19. Molekulare Pathogenese der Nephronophthise: Nephrozystin 4 reguliert die Aktivität des Hippo-Signalweges
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Habbig, S, primary, Bartram, M, additional, Müller, RU, additional, Schwarz, R, additional, Reinhardt, C, additional, Saegmüller, J, additional, Benzing, T, additional, and Schermer, B, additional
- Published
- 2011
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20. Leberfibrose bei zystischen Nierenerkrankungen-Anwendung der transienten Elastografie (Fibroscan®) zur Erkennung und Quantifizierung
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Kummer, S, primary, Sagir, A, additional, Pandey, S, additional, Feldkötter, M, additional, Habbig, S, additional, Hoppe, B, additional, Mayatepek, E, additional, and Oh, J, additional
- Published
- 2011
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21. Nephrolithiasis und Nephrokalzinose
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Habbig, S., primary, Beck, B. B., primary, and Hoppe, B., additional
- Published
- 2010
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- View/download PDF
22. Post-Appendectomy Intra-Abdominal Abscesses - Can They Successfully Be Managed with the Sole Use of Antibiotic Therapy?
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Forgues, D., primary, Habbig, S., additional, Diallo, A., additional, Kalfa, N., additional, Lopez, M., additional, Allal, H., additional, Guibal, M., additional, Sabatier-Laval, E., additional, and Galifer, R., additional
- Published
- 2007
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23. Qualität aktueller Leitlinien zur Diagnostik und Behandlung alkoholbezogener Störungen
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Berner, M. M., primary, Habbig, S., additional, and Härter, M., additional
- Published
- 2004
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- View/download PDF
24. Nephrozystin-4 is a negative regulator of hippo signaling
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Habbig, S., Bartram, M., Mueller, R. U., Schwarz, R., Saegmueller, J., Liebau, M., Benzing, T., and Bernhard Schermer
25. The case: a boy with recurrent stones.
- Author
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Beck BB, Laube N, Habbig S, Feldkötter M, Fries JW, and Hoppe BU
- Published
- 2008
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26. Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.
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Kołbuc M, Kołek MF, Motyka R, Bieniaś B, Habbig S, Burgmaier K, Prikhodina L, Papizh S, Tasic V, Okorn C, Szczepańska M, Kiliś-Pstrusińska K, Wasilewska A, Adamczyk P, Tkaczyk M, Pańczyk-Tomaszewska M, Miklaszewska M, Pawlaczyk K, Bukowska-Olech E, Jamsheer A, Jankauskiene A, König J, Cheong HI, Ahn YH, Kaspar S, Sikora P, Beck BB, and Zaniew M
- Subjects
- Child, Humans, Young Adult, Retrospective Studies, Kidney abnormalities, Mutation, Magnesium, Hepatocyte Nuclear Factor 1-beta genetics, Urogenital Abnormalities, Urinary Tract abnormalities, Kidney Diseases genetics, Vesico-Ureteral Reflux
- Abstract
Background: We aimed to develop a tool for predicting HNF1B mutations in children with congenital abnormalities of the kidneys and urinary tract (CAKUT)., Methods: The clinical and laboratory data from 234 children and young adults with known HNF1B mutation status were collected and analyzed retrospectively. All subjects were randomly divided into a training (70%) and a validation set (30%). A random forest model was constructed to predict HNF1B mutations. The recursive feature elimination algorithm was used for feature selection for the model, and receiver operating characteristic curve statistics was used to verify its predictive effect., Results: A total of 213 patients were analyzed, including HNF1B-positive (mut + , n = 109) and HNF1B-negative (mut - , n = 104) subjects. The majority of patients had mild chronic kidney disease. Kidney phenotype was similar between groups, but bilateral kidney anomalies were more frequent in the mut + group. Hypomagnesemia and hypermagnesuria were the most common abnormalities in mut + patients and were highly selective of HNF1B. Hypomagnesemia based on age-appropriate norms had a better discriminatory value than the age-independent cutoff of 0.7 mmol/l. Pancreatic anomalies were almost exclusively found in mut + patients. No subjects had hypokalemia; the mean serum potassium level was lower in the HNF1B cohort. The abovementioned, discriminative parameters were selected for the model, which showed a good performance (area under the curve: 0.85; sensitivity of 93.67%, specificity of 73.57%). A corresponding calculator was developed for use and validation., Conclusions: This study developed a simple tool for predicting HNF1B mutations in children and young adults with CAKUT., (© 2024. The Author(s).)
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- 2024
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27. 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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28. Difficult-to-Treat Nephrotic Syndrome in Childhood-Global Depletion of B-Cells.
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Weber LT, Habbig S, and Hackl A
- Published
- 2024
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29. Long-term Effects of Kidney Transplantation Compared With Dialysis on Intima-media Thickness in Children-Results From the 4C-T Study.
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Grabitz C, Sugianto RI, Doyon A, Azukaitis K, Anarat A, Bacchetta J, Bayazit AK, Bulut IK, Caliskan S, Canpolat N, Duzova A, Habbig S, Harambat J, Kiyak A, Longo G, Obrycki L, Paripovic D, Söylemezoğlu O, Thurn-Valsassina D, Yilmaz A, Shroff R, Schaefer F, Schmidt BMW, and Melk A
- Subjects
- Humans, Male, Child, Female, Prospective Studies, Adolescent, Time Factors, Risk Factors, Treatment Outcome, Kidney Failure, Chronic therapy, Kidney Failure, Chronic surgery, Age Factors, Kidney Transplantation adverse effects, Carotid Intima-Media Thickness, Renal Dialysis
- Abstract
Background: Children requiring kidney replacement therapy experience high burden of cardiovascular (CV) disease leading to increased mortality. Intima-media thickness (IMT) indicating atherosclerosis is a validated surrogate marker for future CV events., Methods: We investigated the effect of different treatment modalities (dialysis, preemptive kidney transplantation (KTx), late KTx after dialysis) on IMT by multivariable linear mixed-effect modeling. Patients were enrolled in a prospective cohort study., Results: A total of 261 analyzed children had a mean follow-up of 3 y. Children after preemptive and late KTx had lower levels of IMT when compared with dialysis. Using an interaction term, a significant progression of IMT over time was seen during dialysis (β = 0.0053 mm/y, P = 0.004). IMT before the start of therapy was the most influential determinant in all models. Low IMT was associated with maintenance steroid treatment after preemptive KTx. High IMT on dialysis was associated with higher systolic blood pressure, lower body mass index, lower serum albumin, and lower bicarbonate., Conclusions: IMT remained rather stable in children several years after KTx. In contrast, children on dialysis had higher IMT values, which increased over time. In these children, blood pressure control, calorie and protein intake, and acid-base homeostasis seem important. Taken together, children might profit from early transplantation to limit accumulation of CV risk., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)
- Published
- 2024
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30. Low incidence of acute kidney injury in VLBW infants with restrictive use of mechanical ventilation.
- Author
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Burgmaier K, Zeiher M, Weber A, Cosgun ZC, Aydin A, Kuehne B, Burgmaier M, Hellmich M, Mehler K, Kribs A, and Habbig S
- Subjects
- Infant, Newborn, Infant, Humans, Child, Preschool, Incidence, Retrospective Studies, Infant, Very Low Birth Weight, Risk Factors, Respiration, Artificial adverse effects, Acute Kidney Injury epidemiology, Acute Kidney Injury etiology, Acute Kidney Injury therapy
- Abstract
Background: We assessed the incidence of and risk factors for acute kidney injury (AKI) in very low birthweight infants (VLBW) in a center with a specific neonatal management protocol focusing on avoidance of early mechanical ventilation (MV)., Methods: This retrospective single center analysis includes 128 infants born in 2020 with a gestational age ≥ 22 weeks who were screened for AKI using the nKDIGO criteria., Results: AKI was identified in 25/128 patients (19.5%) with eight of them (6.3%) presenting with severe AKI. Low gestational age, birthweight and 10-minute Apgar score as well as high CRIB-1 score were all associated with incidence of AKI. Forty-five percent of the infants with MV developed AKI vs. 8.9% of those without MV (p < 0.001). Early onset of MV and administration of more than 3 dosages of NSAIDs for patent duct were identified as independent risk factors for AKI in a logistic regression analysis., Conclusions: We report a substantially lower frequency of AKI in VLBW infants as compared to previous studies, along with a very low rate of MV. A neonatal protocol focusing on avoidance of MV within the first days of life may be a key factor to decrease the risk of AKI in immature infants., (© 2023. The Author(s).)
- Published
- 2024
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31. The role of the FSGS disease gene product and nuclear pore protein NUP205 in regulating nuclear localization and activity of transcriptional regulators YAP and TAZ.
- Author
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Ester L, Cabrita I, Ventzke M, Kieckhöfer E, Christodoulou M, Mandel AM, Diefenhardt P, Fabretti F, Benzing T, Habbig S, and Schermer B
- Subjects
- Humans, Adaptor Proteins, Signal Transducing genetics, Adaptor Proteins, Signal Transducing metabolism, Intracellular Signaling Peptides and Proteins metabolism, Karyopherins, Nuclear Pore metabolism, Phosphoproteins genetics, RNA, Transcription Factors genetics, Transcription Factors metabolism, YAP-Signaling Proteins, Glomerulosclerosis, Focal Segmental genetics, Nuclear Pore Complex Proteins genetics
- Abstract
Mutations in genes encoding nuclear pore proteins (NUPs) lead to the development of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). However, the precise molecular mechanisms by which NUP dysfunction contributes to podocyte injury preceding FSGS remain unclear. The tightly regulated activity of Yes-associated protein (YAP) and WW-domain-containing transcription regulator 1 (TAZ), the transcriptional effectors of the Hippo pathway, is crucial for podocytes and the maintenance of the glomerular filter. In this study, we investigate the impact of NUPs on the regulation of YAP/TAZ nuclear import and activity in podocytes. In unbiased interactome studies using quantitative label-free mass spectrometry, we identify the FSGS disease gene products NUP107, NUP133, NUP205, and Exportin-5 (XPO5) as components of YAP and TAZ protein complexes in podocytes. Moreover, we demonstrate that NUP205 is essential for YAP/TAZ nuclear import. Consistently, both the nuclear interaction of YAP/TAZ with TEA domain transcription factor 1 and their transcriptional activity were dependent on NUP205 expression. Additionally, we elucidate a regulatory feedback mechanism whereby YAP activity is modulated in response to TAZ-mediated NUP205 expression. In conclusion, this study establishes a connection between the FSGS disease protein NUP205 and the activity of the transcriptional regulators and Hippo effectors YAP and TAZ and it proposes a potential pathological role of YAP/TAZ dysregulation in podocytes of patients with pathogenic NUP205 variants., (© The Author(s) 2023. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)
- Published
- 2023
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- View/download PDF
32. Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1.
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Martin-Higueras C, Borghese L, Torres A, Fraga-Bilbao F, Santana-Estupiñán R, Stefanidis CJ, Tory K, Walli A, Gondra L, Kempf C, Gessner M, Habbig S, Eifler L, Schmitt CP, Rüdel B, Bartram MP, Beck BB, and Hoppe B
- Abstract
Introduction: The RNA interference (RNAi) medication lumasiran reduces hepatic oxalate production in primary hyperoxaluria type 1 (PH1). Data outside clinical trials are scarce., Methods: We report on retrospectively and observationally obtained data in 33 patients with PH1 (20 with preserved kidney function, 13 on dialysis) treated with lumasiran for a median of 18 months., Results: Among those with preserved kidney function, mean urine oxalate (Uox) decreased from 1.88 (baseline) to 0.73 mmol/1.73 m
2 per 24h after 3 months, to 0.72 at 12 months, and to 0.65 at 18 months, but differed according to vitamin B6 (VB6) medication. The highest response was at month 4 (0.55, -70.8%). Plasma oxalate (Pox) remained stable over time. Glomerular filtration rate increased significantly by 10.5% at month 18. Nephrolithiasis continued active in 6 patients, nephrocalcinosis ameliorated or progressed in 1 patient each. At last follow-up, Uox remained above 1.5 upper limit of normal (>0.75 mmol/1.73 m2 per 24h) in 6 patients. Urinary glycolate (Uglyc) and plasma glycolate (Pglyc) significantly increased in all, urine citrate decreased, and alkali medication needed adaptation. Among those on dialysis, mean Pox and Pglyc significantly decreased and increased, respectively after monthly dosing (Pox: 78-37.2, Pglyc: 216.4-337.4 μmol/l). At quarterly dosing, neither Pox nor Pglyc were significantly different from baseline levels. An acid state was buffered by an increased dialysis regimen. Systemic oxalosis remained unchanged., Conclusion: Lumasiran treatment is safe and efficient. Dosage (interval) adjustment necessities need clarification. In dialysis, lack of Pox reduction may relate to dissolving systemic oxalate deposits. Pglyc increment may be a considerable acid load requiring careful consideration, which definitively needs further investigation., (© 2023 International Society of Nephrology. Published by Elsevier Inc.)- Published
- 2023
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33. Humoral immune response and live-virus neutralization of the SARS-CoV-2 omicron (BA.1) variant after COVID-19 mRNA vaccination in children and young adults with chronic kidney disease.
- Author
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Stich M, Di Cristanziano V, Tönshoff B, Weber LT, Dötsch J, Rammer MT, Rieger S, Heger E, Garbade SF, Burgmaier K, Benning L, Speer C, Habbig S, and Haumann S
- Subjects
- Adolescent, Humans, Child, Female, Young Adult, BNT162 Vaccine, COVID-19 Vaccines, Retrospective Studies, SARS-CoV-2, Vaccination, Immunosuppressive Agents therapeutic use, RNA, Messenger, Antibodies, Viral, Immunity, Humoral, COVID-19 prevention & control
- Abstract
Background: Data on humoral immune response to standard COVID-19 vaccination are scarce in adolescent patients and lacking for children below 12 years of age with chronic kidney disease including kidney transplant recipients., Methods: We therefore investigated in this retrospective two-center study (DRKS00024668; registered 23.03.2021) the humoral immune response to a standard two-dose mRNA vaccine regimen in 123 CKD patients aged 5-30 years. A live-virus assay was used to assess the serum neutralizing activity against the SARS-CoV-2 omicron (BA.1) variant., Results: Children aged 5-11 years had a comparable rate and degree of immune response to adolescents despite lower vaccine doses (10 µg vs. 30 µg BNT162b2). Treatment with two (odds ratio 9.24) or three or more (odds ratio 17.07) immunosuppressants was an independent risk factor for nonresponse. The immune response differed significantly among three patient cohorts: 48 of 77 (62.3%) kidney transplant recipients, 21 of 26 (80.8%) patients on immunosuppressive therapy, and 19 of 20 (95.0%) patients with chronic kidney disease without immunosuppressive therapy responded. In the kidney transplant recipients, immunosuppressive regimens comprising mycophenolate mofetil, an eGFR of < 60 mL/min/1.73 m
2 , and female sex were independent risk factors for nonresponse. Two of 18 (11.1%) and 8 of 16 (50.0%) patients with an anti-S1-RBD IgG of 100-1411 and > 1411 BAU/mL, respectively, showed a neutralization activity against the omicron variant., Conclusion: A standard mRNA vaccine regimen in immunosuppressed children and adolescents with kidney disease elicits an attenuated humoral immune response with effective live virus neutralization against the omicron variant in approximately 10% of the patients, underlying the need for omicron-adapted vaccination. A higher resolution version of the Graphical abstract is available as Supplementary information., (© 2022. The Author(s).)- Published
- 2023
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- View/download PDF
34. Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
- Author
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Erger F, Aryal RP, Reusch B, Matsumoto Y, Meyer R, Zeng J, Knopp C, Noel M, Muerner L, Wenzel A, Kohl S, Tschernoster N, Rappl G, Rouvet I, Schröder-Braunstein J, Seibert FS, Thiele H, Häusler MG, Weber LT, Büttner-Herold M, Elbracht M, Cummings SF, Altmüller J, Habbig S, Cummings RD, and Beck BB
- Subjects
- Male, Humans, Mutation, Polysaccharides metabolism, Germ Cells metabolism, Molecular Chaperones metabolism, Acute Kidney Injury
- Abstract
Mutations in genes encoding molecular chaperones can lead to chaperonopathies, but none have so far been identified causing congenital disorders of glycosylation. Here we identified two maternal half-brothers with a novel chaperonopathy, causing impaired protein O-glycosylation. The patients have a decreased activity of T-synthase ( C1GALT1 ), an enzyme that exclusively synthesizes the T-antigen, a ubiquitous O-glycan core structure and precursor for all extended O-glycans. The T-synthase function is dependent on its specific molecular chaperone Cosmc, which is encoded by X-chromosomal C1GALT1C1 . Both patients carry the hemizygous variant c.59C>A (p.Ala20Asp; A20D-Cosmc) in C1GALT1C1 . They exhibit developmental delay, immunodeficiency, short stature, thrombocytopenia, and acute kidney injury (AKI) resembling atypical hemolytic uremic syndrome. Their heterozygous mother and maternal grandmother show an attenuated phenotype with skewed X-inactivation in blood. AKI in the male patients proved fully responsive to treatment with the complement inhibitor Eculizumab. This germline variant occurs within the transmembrane domain of Cosmc, resulting in dramatically reduced expression of the Cosmc protein. Although A20D-Cosmc is functional, its decreased expression, though in a cell or tissue-specific manner, causes a large reduction of T-synthase protein and activity, which accordingly leads to expression of varied amounts of pathological Tn-antigen (GalNAcα1-O-Ser/Thr/Tyr) on multiple glycoproteins. Transient transfection of patient lymphoblastoid cells with wild-type C1GALT1C1 partially rescued the T-synthase and glycosylation defect. Interestingly, all four affected individuals have high levels of galactose-deficient IgA1 in sera. These results demonstrate that the A20D-Cosmc mutation defines a novel O-glycan chaperonopathy and causes the altered O-glycosylation status in these patients.
- Published
- 2023
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35. Use of Sotrovimab in 14 Children with COVID-19: A Single-center Experience.
- Author
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Butzer SK, Habbig S, Mehler K, Haumann S, Meyer M, Jung N, and Oberthür A
- Subjects
- Adult, Child, Humans, Antibodies, Monoclonal, Humanized, Antibodies, Monoclonal, Antibodies, Neutralizing, COVID-19
- Abstract
Children affected by coronavirus disease 2019 (COVID-19) with preexisting comorbidities are at risk of complications. Monoclonal antibodies prevent severe COVID-19 courses in adults but data on children are scarce. Here we report on the use of Sotrovimab in 14 children at risk of severe disease treated at the University of Cologne Children's Hospital. Tolerability was good and no infusion-related reactions were seen., Competing Interests: A.O. received lecture fees from AstraZeneca GmbH and Chiesi Pharmaceuticals. N.J. has received lecture fees from Gilead, Infectopharm, MSD, Bayer and Labor Stein and travel grants from Pfizer, Gilead, Basilea, Correvio, Pfizer and Novartis and grants from an observational study from Infectopharm. The other authors have no funding or conflicts of interest to disclose., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)
- Published
- 2023
- Full Text
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36. Nutritional and Anthropometric Indices in Children Receiving Haemodiafiltration vs Conventional Haemodialysis - The HDF, Heart and Height (3H) Study.
- Author
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Paglialonga F, Monzani A, Prodam F, Smith C, De Zan F, Canpolat N, Agbas A, Bayazit A, Anarat A, Bakkaloglu SA, Askiti V, Stefanidis CJ, Azukaitis K, Bulut IK, Borzych-Dużałka D, Duzova A, Habbig S, Krid S, Licht C, Litwin M, Obrycki L, Ranchin B, Samaille C, Shenoy M, Sinha MD, Spasojevic B, Vidal E, Yilmaz A, Fischbach M, Schaefer F, Schmitt CP, Edefonti A, and Shroff R
- Subjects
- Humans, Child, Insulin-Like Growth Factor I, Leptin, Cross-Sectional Studies, Adiponectin, Renal Dialysis adverse effects, Body Weight, Hemodiafiltration adverse effects, Kidney Failure, Chronic therapy, Kidney Failure, Chronic etiology
- Abstract
Background: The "HDF-Heart-Height" study showed that haemodiafiltration (HDF) is associated with improved growth compared to conventional haemodialysis (HD). We report a post-hoc analysis of this study assessing the effect of extracorporeal dialysis therapies on nutritional indices., Methods: 107 children were included in the baseline cross-sectional analysis, of whom 79 (43 HD, 36 HDF) completed the 12-month follow-up. Height (Ht), optimal 'dry' weight (Wt), and body mass index (BMI) standard deviations scores (SDS), waist-to-hip ratio, des-acyl ghrelin (DAG), adiponectin, leptin, insulin-like growth factor-1 (IGF-1)-SDS and insulin were measured., Results: The levels of nutritional indices were comparable between HDF and HD patients at baseline and 12-month. On univariable analyses Wt-SDS positively correlated with leptin and IGF-1-SDS, and negatively with DAG, while Ht-SDS of the overall cohort positively correlated with IGF1-SDS and inversely with DAG and adiponectin. On multivariable analyses, higher 12-month Ht-SDS was inversely associated with baseline DAG (beta = -0.13 per 500 higher; 95%CI -0.22, -0.04; P = .004). Higher Wt-SDS at 12-month was positively associated with HDF modality (beta = 0.47 vs HD; 95%CI 0.12-0.83; P = .01) and inversely with baseline DAG (beta = -0.18 per 500 higher; 95%CI -0.32, -0.05; P = .006). Growth Hormone (GH) treated patients receiving HDF had higher annualized increase in Ht SDS compared to those on HD., Conclusions: In children on HD and HDF both Wt- and Ht-SDS independently correlated with lower baseline levels of the anorexygenic hormone DAG. HDF may attenuate the resistance to GH, but further studies are required to examine the mechanisms linking HDF to improved growth., (Copyright © 2022 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.)
- Published
- 2023
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37. Modeling of ACTN4 -Based Podocytopathy Using Drosophila Nephrocytes.
- Author
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Odenthal J, Dittrich S, Ludwig V, Merz T, Reitmeier K, Reusch B, Höhne M, Cosgun ZC, Hohenadel M, Putnik J, Göbel H, Rinschen MM, Altmüller J, Koehler S, Schermer B, Benzing T, Beck BB, Brinkkötter PT, Habbig S, and Bartram MP
- Abstract
Introduction: Genetic disorders are among the most prevalent causes leading to progressive glomerular disease and, ultimately, end-stage renal disease (ESRD) in children and adolescents. Identification of underlying genetic causes is indispensable for targeted treatment strategies and counseling of affected patients and their families., Methods: Here, we report on a boy who presented at 4 years of age with proteinuria and biopsy-proven focal segmental glomerulosclerosis (FSGS) that was temporarily responsive to treatment with ciclosporin A. Molecular genetic testing identified a novel mutation in alpha-actinin-4 (p.M240T). We describe a feasible and efficient experimental approach to test its pathogenicity by combining in silico , in vitro , and in vivo analyses., Results: The de novo p.M240T mutation led to decreased alpha-actinin-4 stability as well as protein mislocalization and actin cytoskeleton rearrangements. Transgenic expression of wild-type human alpha-actinin-4 in Drosophila melanogaster nephrocytes was able to ameliorate phenotypes associated with the knockdown of endogenous actinin. In contrast, p.M240T, as well as other established disease variants p.W59R and p.K255E, failed to rescue these phenotypes, underlining the pathogenicity of the novel alpha-actinin-4 variant., Conclusion: Our data highlight that the newly identified alpha-actinin-4 mutation indeed encodes for a disease-causing variant of the protein and promote the Drosophila model as a simple and convenient tool to study monogenic kidney disease in vivo ., (© 2022 Published by Elsevier Inc. on behalf of the International Society of Nephrology.)
- Published
- 2022
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38. Chronic Kidney Disease and Pregnancy. Guideline of the DGGG, OEGGG, DGfN (S2k Level, AWMF Registry No. 015 - 090).
- Author
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Schmidt M, Stracke S, Schneider U, Kuschel B, Feldkamp T, Habbig S, Mayer-Pickel K, Hartung A, Bader B, Weinmann-Menke J, Korst U, Vom Dorp F, and Schäfer-Graf UM
- Abstract
Aim As diagnostic and therapeutic options have improved in recent years, women with limited renal function of varying etiologies are now able to become pregnant. Depending on the extent of disease and the patients' comorbidities, the care of these women can be especially challenging. This guideline aims to improve the interdisciplinary care offered to pregnant women with kidney disease. Methods A selective literature search was carried out. This S2k guideline was then compiled using a structured consensus-based process which included representatives from different medical specialties and professional societies. Recommendations Recommendations for the care of pregnant women with renal disease were developed to cover preconception counseling, the recording of risks, special aspects of prenatal care and prenatal screening, as well as the specific treatment options for the underlying disease in women wanting to have children and pregnant women., Competing Interests: Conflict of Interest/Interessenkonflikt The conflicts of interest of all of the authors are listed in the long (German-language) version of the guideline./Die Interessenkonflikte der Autor*innen sind in der Langfassung der Leitlinie aufgelistet., (Thieme. All rights reserved.)
- Published
- 2022
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39. Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
- Author
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König JC, Karsay R, Gerß J, Schlingmann KP, Dahmer-Heath M, Telgmann AK, Kollmann S, Ariceta G, Gillion V, Bockenhauer D, Bertholet-Thomas A, Mastrangelo A, Boyer O, Lilien M, Decramer S, Schanstra JP, Pohl M, Schild R, Weber S, Hoefele J, Drube J, Cetiner M, Hansen M, Thumfart J, Tönshoff B, Habbig S, Liebau MC, Bald M, Bergmann C, Pennekamp P, and Konrad M
- Abstract
Introduction: Nephronophthisis (NPH) comprises a group of rare disorders accounting for up to 10% of end-stage kidney disease (ESKD) in children. Prediction of kidney prognosis poses a major challenge. We assessed differences in kidney survival, impact of variant type, and the association of clinical characteristics with declining kidney function., Methods: Data was obtained from 3 independent sources, namely the network for early onset cystic kidney diseases clinical registry ( n = 105), an online survey sent out to the European Reference Network for Rare Kidney Diseases ( n = 60), and a literature search ( n = 218)., Results: A total of 383 individuals were available for analysis: 116 NPHP1 , 101 NPHP3 , 81 NPHP4 and 85 NPHP11/TMEM67 patients. Kidney survival differed between the 4 cohorts with a highly variable median age at onset of ESKD as follows: NPHP3, 4.0 years (interquartile range 0.3-12.0); NPHP1 , 13.5 years (interquartile range 10.5-16.5); NPHP4, 16.0 years (interquartile range 11.0-25.0); and NPHP11/TMEM67, 19.0 years (interquartile range 8.7-28.0). Kidney survival was significantly associated with the underlying variant type for NPHP1 , NPHP3 , and NPHP4 . Multivariate analysis for the NPHP1 cohort revealed growth retardation (hazard ratio 3.5) and angiotensin-converting enzyme inhibitor (ACEI) treatment (hazard ratio 2.8) as 2 independent factors associated with an earlier onset of ESKD, whereas arterial hypertension was linked to an accelerated glomerular filtration rate (GFR) decline., Conclusion: The presented data will enable clinicians to better estimate kidney prognosis of distinct patients with NPH and thereby allow personalized counseling., (© 2022 International Society of Nephrology. Published by Elsevier Inc.)
- Published
- 2022
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40. Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing.
- Author
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Tschernoster N, Erger F, Walsh PR, McNicholas B, Fistrek M, Habbig S, Schumacher AL, Folz-Donahue K, Kukat C, Toliat MR, Becker C, Thiele H, Kavanagh D, Nürnberg P, Beck BB, and Altmüller J
- Subjects
- Complement C3b Inactivator Proteins genetics, Complement C3b Inactivator Proteins metabolism, Haplotypes, Humans, Pilot Projects, Atypical Hemolytic Uremic Syndrome diagnosis, Atypical Hemolytic Uremic Syndrome genetics, Complement Factor H genetics, Multigene Family
- Abstract
Complement factor H (CFH) and its related proteins have an essential role in regulating the alternative pathway of the complement system. Mutations and structural variants (SVs) of the CFH gene cluster, consisting of CFH and its five related genes (CFHR1-5), have been reported in renal pathologies as well as in complex immune diseases like age-related macular degeneration and systemic lupus erythematosus. SV analysis of this cluster is challenging because of its high degree of sequence homology. Following first-line next-generation sequencing gene panel sequencing, we applied Genomic Vision's Molecular Combing Technology to detect and visualize SVs within the CFH gene cluster and resolve its structural haplotypes completely. This approach was tested in three patients with atypical hemolytic uremic syndrome and known SVs and 18 patients with atypical hemolytic uremic syndrome or complement factor 3 glomerulopathy with unknown CFH gene cluster haplotypes. Three SVs, a CFH/CFHR1 hybrid gene in two patients and a rare heterozygous CFHR4/CFHR1 deletion in trans with the common CFHR3/CFHR1 deletion in a third patient, were newly identified. For the latter, the breakpoints were determined using a targeted enrichment approach for long DNA fragments (Samplix Xdrop) in combination with Oxford Nanopore sequencing. Molecular combing in addition to next-generation sequencing was able to improve the molecular genetic yield in this pilot study. This (cost-)effective approach warrants validation in larger cohorts with CFH/CFHR-associated disease., (Copyright © 2022 Association for Molecular Pathology and American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.)
- Published
- 2022
- Full Text
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41. Prevalence and potential relevance of hyperuricemia in pediatric kidney transplant recipients-a CERTAIN registry analysis.
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Ehren R, Habbig S, Krupka K, Ernst A, Bald M, König S, Murer L, Özçakar ZB, Pohl M, Babenko N, Spartà G, Staude H, Dello Strologo L, Szabó AJ, Tönshoff B, and Weber LT
- Subjects
- Child, Glomerular Filtration Rate physiology, Humans, Prevalence, Registries, Risk Factors, Uric Acid, Hyperuricemia complications, Hyperuricemia diagnosis, Hyperuricemia epidemiology, Kidney Transplantation adverse effects
- Abstract
Background: Asymptomatic hyperuricemia is frequently observed in pediatric kidney transplant recipients; symptomatic hyperuricemia, however, is a rare complication. Only few data are available in this patient population. We, therefore, investigated the prevalence of hyperuricemia and its association with kidney transplant function and blood pressure in a multicenter cohort of pediatric kidney transplant recipients., Methods: This is a retrospective, observational multicenter registry study. All pediatric kidney transplant recipients in the CERTAIN database with at least one documented serum uric acid level and a follow-up of 5 years posttransplant were eligible. We identified 151 patients with 395 measurements of serum uric acid. We calculated the prevalence of hyperuricemia, analyzed potential risk factors and clinical consequences such as elevated blood pressure and reduced estimated glomerular filtration rate (eGFR). Statistical analysis was performed using IBM SPSS Statistics 26., Results: One hundred and ten of 395 (27.8%) serum uric acid levels were above 416 µmol/L (7.0 mg/dL), defined as the upper limit of normal. Univariate analysis showed a significant (p = .026) inverse association of serum uric acid with eGFR overtime. There was no significant association of serum uric acid concentrations with body mass index (z-score), blood pressure (z-score), or sex. No episodes of gout were documented., Conclusion: This study shows that hyperuricemia is present in a considerable number of patients sometime after pediatric kidney transplantation and is associated with lower eGFR. Whether hyperuricemia contributes to faster decline of graft function or to the overall cardiovascular risk of these patients remains to be elucidated., (© 2022 The Authors. Pediatric Transplantation published by Wiley Periodicals LLC.)
- Published
- 2022
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42. NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy.
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Birtel J, Spital G, Book M, Habbig S, Bäumner S, Riehmer V, Beck BB, Rosenkranz D, Bolz HJ, Dahmer-Heath M, Herrmann P, König J, and Charbel Issa P
- Subjects
- Electroretinography, Fluorescein Angiography, Humans, Tomography, Optical Coherence, Visual Fields, Adaptor Proteins, Signal Transducing genetics, Cytoskeletal Proteins genetics, Kidney Diseases, Cystic genetics, Retinal Diseases genetics
- Abstract
Biallelic deletions in the NPHP1 gene are the most frequent molecular defect of nephronophthisis, a kidney ciliopathy and leading cause of hereditary end-stage kidney disease. Nephrocystin 1, the gene product of NPHP1, is also expressed in photoreceptors where it plays an important role in intra-flagellar transport between the inner and outer segments. However, the human retinal phenotype has never been investigated in detail. Here, we characterized retinal features of 16 patients with homozygous deletions of the entire NPHP1 gene. Retinal assessment included multimodal imaging (optical coherence tomography, fundus autofluorescence) and visual function testing (visual acuity, full-field electroretinography, color vision, visual field). Fifteen patients had a mild retinal phenotype that predominantly affected cones, but with relative sparing of the fovea. Despite a predominant cone dysfunction, night vision problems were an early symptom in some cases. The consistent retinal phenotype on optical coherence tomography images included reduced reflectivity and often a granular appearance of the ellipsoid zone, fading or loss of the interdigitation zone, and mild outer retinal thinning. However, there were usually no obvious structural changes visible upon clinical examination and fundus autofluorescence imaging (occult retinopathy). More advanced retinal degeneration might occur with ageing. An identified additional CEP290 variant in one patient with a more severe retinal degeneration may indicate a potential role for genetic modifiers, although this requires further investigation. Thus, diagnostic awareness about this distinct retinal phenotype has implications for the differential diagnosis of nephronophthisis and for individual prognosis of visual function., (Copyright © 2021 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.)
- Published
- 2021
- Full Text
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43. Real-world data of six patients with atypical hemolytic uremic syndrome switched to ravulizumab.
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Ehren R and Habbig S
- Subjects
- Humans, Antibodies, Monoclonal, Humanized, Atypical Hemolytic Uremic Syndrome drug therapy, Atypical Hemolytic Uremic Syndrome genetics
- Published
- 2021
- Full Text
- View/download PDF
44. Hemodiafiltration maintains a sustained improvement in blood pressure compared to conventional hemodialysis in children-the HDF, heart and height (3H) study.
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De Zan F, Smith C, Duzova A, Bayazit A, Stefanidis CJ, Askiti V, Azukaitis K, Canpolat N, Agbas A, Anarat A, Aoun B, Bakkaloglu SA, Borzych-Dużałka D, Bulut IK, Habbig S, Krid S, Licht C, Litwin M, Obrycki L, Paglialonga F, Ranchin B, Samaille C, Shenoy M, Sinha MD, Spasojevic B, Yilmaz A, Fischbach M, Schmitt CP, Schaefer F, Vidal E, and Shroff R
- Subjects
- Blood Pressure, Child, Humans, Hypertension therapy, Renal Dialysis adverse effects, Weight Gain, Hemodiafiltration, Kidney Failure, Chronic therapy
- Abstract
Background: Hypertension is prevalent in children on dialysis and associated with cardiovascular disease. We studied the blood pressure (BP) trends and the evolution of BP over 1 year in children on conventional hemodialysis (HD) vs. hemodiafiltration (HDF)., Methods: This is a post hoc analysis of the "3H - HDF-Hearts-Height" dataset, a multicenter, parallel-arm observational study. Seventy-eight children on HD and 55 on HDF who had three 24-h ambulatory BP monitoring (ABPM) measures over 1 year were included. Mean arterial pressure (MAP) was calculated and hypertension defined as 24-h MAP standard deviation score (SDS) ≥95th percentile., Results: Poor agreement between pre-dialysis systolic BP-SDS and 24-h MAP was found (mean difference - 0.6; 95% limits of agreement -4.9-3.8). At baseline, 82% on HD and 44% on HDF were hypertensive, with uncontrolled hypertension in 88% vs. 25% respectively; p < 0.001. At 12 months, children on HDF had consistently lower MAP-SDS compared to those on HD (p < 0.001). Over 1-year follow-up, the HD group had mean MAP-SDS increase of +0.98 (95%CI 0.77-1.20; p < 0.0001), whereas the HDF group had a non-significant increase of +0.15 (95%CI -0.10-0.40; p = 0.23). Significant predictors of MAP-SDS were dialysis modality (β = +0.83 [95%CI +0.51 - +1.15] HD vs. HDF, p < 0.0001) and higher inter-dialytic-weight-gain (IDWG)% (β = 0.13 [95%CI 0.06-0.19]; p = 0.0003)., Conclusions: Children on HD had a significant and sustained increase in BP over 1 year compared to a stable BP in those on HDF, despite an equivalent dialysis dose. Higher IDWG% was associated with higher 24-h MAP-SDS in both groups.
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- 2021
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45. Hyperuricemia Is an Early and Relatively Common Feature in Children with HNF1B Nephropathy but Its Utility as a Predictor of the Disease Is Limited.
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Kołbuc M, Bieniaś B, Habbig S, Kołek MF, Szczepańska M, Kiliś-Pstrusińska K, Wasilewska A, Adamczyk P, Motyka R, Tkaczyk M, Sikora P, Beck BB, and Zaniew M
- Abstract
Background: Hyperuricemia is recognized as an important feature of nephropathy, associated with a mutation in the hepatocyte nuclear factor-1B (HNF1B) gene, and could serve as a useful marker of the disease. However, neither a causal relationship nor its predictive value have been proven. The purpose of this study was to assess this in children with renal malformations, both with (mut+) and without HNF1B mutations (mut-)., Methods: We performed a retrospective analysis of clinical characteristics of pediatric patients tested for HNF1B mutations, collected in a national registry., Results: 108 children were included in the study, comprising 43 mut+ patients and 65 mut- subjects. Mean sUA was higher and hyperuricemia more prevalent (42.5% vs. 15.4%) in HNF1B carriers. The two groups were similar with respect to respect to age, sex, anthropometric parameters, hypertension, and renal function. Renal function, fractional excretion of uric acid and parathyroid hormone level were independent predictors of sUA. The potential of hyperuricemia to predict mutation was low, and addition of hyperuricemia to a multivariate logistic regression model did not increase its accuracy., Conclusions: Hyperuricemia is an early and common feature of HNF1B nephropathy. A strong association of sUA with renal function and parathyroid hormone limits its utility as a reliable marker to predict HNF1B mutation among patients with kidney anomalies.
- Published
- 2021
- Full Text
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46. Hemodiafiltration Is Associated With Reduced Inflammation and Increased Bone Formation Compared With Conventional Hemodialysis in Children: The HDF, Hearts and Heights (3H) Study.
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Fischer DC, Smith C, De Zan F, Bacchetta J, Bakkaloglu SA, Agbas A, Anarat A, Aoun B, Askiti V, Azukaitis K, Bayazit A, Bulut IK, Canpolat N, Borzych-Dużałka D, Duzova A, Habbig S, Krid S, Licht C, Litwin M, Obrycki L, Paglialonga F, Rahn A, Ranchin B, Samaille C, Shenoy M, Sinha MD, Spasojevic B, Stefanidis CJ, Vidal E, Yilmaz A, Fischbach M, Schaefer F, Schmitt CP, and Shroff R
- Abstract
Background: Patients on dialysis have a high burden of bone-related comorbidities, including fractures. We report a post hoc analysis of the prospective cohort study HDF, Hearts and Heights (3H) to determine the prevalence and risk factors for chronic kidney disease-related bone disease in children on hemodiafiltration (HDF) and conventional hemodialysis (HD)., Methods: The baseline cross-sectional analysis included 144 children, of which 103 (61 HD, 42 HDF) completed 12-month follow-up. Circulating biomarkers of bone formation and resorption, inflammatory markers, fibroblast growth factor-23, and klotho were measured., Results: Inflammatory markers interleukin-6, tumor necrosis factor-α, and high-sensitivity C-reactive protein were lower in HDF than in HD cohorts at baseline and at 12 months ( P < .001). Concentrations of bone formation (bone-specific alkaline phosphatase) and resorption (tartrate-resistant acid phosphatase 5b) markers were comparable between cohorts at baseline, but after 12-months the bone-specific alkaline phosphatase/tartrate-resistant acid phosphatase 5b ratio increased in HDF ( P = .004) and was unchanged in HD ( P = .44). On adjusted analysis, the bone-specific alkaline phosphatase/tartrate-resistant acid phosphatase 5b ratio was 2.66-fold lower (95% confidence interval, -3.91 to -1.41; P < .0001) in HD compared with HDF. Fibroblast growth factor-23 was comparable between groups at baseline ( P = .52) but increased in HD ( P < .0001) and remained unchanged in HDF ( P = .34) at 12 months. Klotho levels were similar between groups and unchanged during follow-up. The fibroblast growth factor-23/klotho ratio was 3.86-fold higher (95% confidence interval, 2.15-6.93; P < .0001) after 12 months of HD compared with HDF., Conclusion: Children on HDF have an attenuated inflammatory profile, increased bone formation, and lower fibroblast growth factor-23/klotho ratios compared with those on HD. Long-term studies are required to determine the effects of an improved bone biomarker profile on fracture risk and cardiovascular health., (© 2021 International Society of Nephrology. Published by Elsevier Inc.)
- Published
- 2021
- Full Text
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47. Differential assessment of fluid compartments by bioimpedance in pediatric patients with kidney diseases.
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Frey SM, Vogt B, Simonetti GD, Büscher R, Habbig S, and Schaefer F
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- Body Water, Child, Electric Impedance, Female, Humans, Renal Dialysis, Kidney Failure, Chronic, Peritoneal Dialysis
- Abstract
Background: The kidney is central for maintaining water balance. As a corollary, patients with impaired kidney function are prone to pathological fluid volumes. Total body water (TBW) is distributed between the extracellular (ECW) and intracellular fluid compartments (ICW). In clinical practice, the judgment of hydration status does not allow to distinguish between ECW and ICW. Here, we evaluate the hydration status in children with chronic kidney disease by analyzing TBW, ECW, and ICW., Methods: Hydration was quantified using whole-body bioimpedance spectroscopy (BCM) in 128 outpatients (1-25 years, 52 girls). Forty-two were transplanted (TPL), 43 suffered from chronic kidney disease without kidney replacement therapy (CKD), 21 were on peritoneal dialysis (PD), and 22 on hemodialysis (HD). HD patients were investigated before, after, and sequentially during dialysis., Results: The ECW and ICW values obtained by BCM were of the same magnitude as those from the literature using isotope dilution. When compared with a healthy control group, TBW was increased in 9 TPL, 9 CKD, 1 PD, and 11 HD patients before but in none after dialysis. The decline of overhydration during dialysis (p < 0.001, n = 22) correlated with the change in body weight (R
2 = 0.62). The kinetics of fluid compartment changes assessed twice in six HD patients revealed a reproducible linear decay of the ECW/ICW ratio due to an increase of ICW and a decrease of ECW., Conclusion: BCM quantifies TBW and acute changes of ECW and ICW in children with chronic kidney failure. The clinical utility of measuring TBW, ECW, and ICW should be defined in the future.- Published
- 2021
- Full Text
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48. Complement activation in children with Streptococcus pneumoniae associated hemolytic uremic syndrome.
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Holle J, Habbig S, Gratopp A, Mauritsch A, Müller D, and Thumfart J
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- Adolescent, Child, Child, Preschool, Complement Activation, Complement Inactivating Agents therapeutic use, Complement System Proteins, Disease Progression, Humans, Infant, Renal Dialysis, Retrospective Studies, Streptococcus pneumoniae, Atypical Hemolytic Uremic Syndrome diagnosis, Atypical Hemolytic Uremic Syndrome drug therapy, Atypical Hemolytic Uremic Syndrome genetics, Hemolytic-Uremic Syndrome diagnosis, Hemolytic-Uremic Syndrome therapy
- Abstract
Background: Hemolytic uremic syndrome caused by invasive pneumococcal disease (P-HUS) is rare in children and adolescents, but accompanied by high mortality in the acute phase and complicated by long-term renal sequelae. Abnormalities in the alternative complement pathway may additionally be contributing to the course of the disease but also to putative treatment options., Methods: Retrospective study to assess clinical course and laboratory data of the acute phase and outcome of children with P-HUS., Results: We report on seven children (median age 12 months, range 3-28 months) diagnosed with P-HUS. Primary organ manifestation was meningitis in four and pneumonia in three patients. All patients required dialysis which could be discontinued in five of them after a median of 25 days. In two patients, broad functional and genetic complement analysis was performed and revealed alternative pathway activation and risk haplotypes in both. Three patients were treated with the complement C5 inhibitor eculizumab. During a median follow-up time of 11.3 years, one patient died due to infectious complications after transplantation. Two patients showed no signs of renal sequelae., Conclusions: Although pathophysiology in P-HUS remains as yet incompletely understood, disordered complement regulation seems to provide a clue to additional insights for pathology, diagnosis, and even targeted treatment.
- Published
- 2021
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49. Arterial Hypertension in a 10-Year-Old Girl.
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Meeser A, Beck BB, Dübbers M, Habbig S, Kobe C, Koerber F, Dötsch J, Nüsken KD, Weber LT, Landgraf P, DeCarolis B, and Liebau MC
- Subjects
- Adrenal Gland Neoplasms complications, Adrenal Gland Neoplasms metabolism, Adrenal Gland Neoplasms surgery, Catecholamines metabolism, Child, Female, Humans, Hypertension metabolism, Magnetic Resonance Angiography, Pheochromocytoma complications, Pheochromocytoma metabolism, Pheochromocytoma surgery, Renal Artery Obstruction etiology, Ultrasonography, Doppler, Color, von Hippel-Lindau Disease diagnosis, von Hippel-Lindau Disease genetics, Adrenal Gland Neoplasms diagnostic imaging, Hypertension etiology, Pheochromocytoma diagnostic imaging, Renal Artery Obstruction diagnostic imaging
- Published
- 2021
- Full Text
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50. Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT).
- Author
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Kohl S, Habbig S, Weber LT, and Liebau MC
- Abstract
Congenital anomalies of the kidney and urinary tract (CAKUT) occur in 0.5-1/100 newborns and as a group they represent the most frequent cause for chronic kidney failure in children. CAKUT comprise clinically heterogeneous conditions, ranging from mild vesicoureteral reflux to kidney aplasia. Most forms of CAKUT share the pathophysiology of an impaired developmental interaction of the ureteric bud (UB) and the metanephric mesenchyme (MM). In most cases, CAKUT present as an isolated condition. They also may occur as a component in rare multi-organ syndromes. Many CAKUT probably have a multifactorial etiology. However, up to 20% of human patients and > 200 transgenic mouse models have a monogenic form of CAKUT, which has fueled our efforts to unravel molecular kidney (mal-)development. To date, genetic variants in more than 50 genes have been associated with (isolated) CAKUT in humans. In this short review, we will summarize typical imaging findings in patients with CAKUT and highlight recent mechanistic insight in the molecular pathogenesis of monogenic forms of CAKUT.
- Published
- 2021
- Full Text
- View/download PDF
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