Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
| Autor: | Buffin-Meyer B; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; University Paul Sabatier, Toulouse-III, Toulouse, France., Richard J; Department of Pediatric Internal Medicine, Rheumatology and Nephrology, Toulouse University Hospital, Toulouse, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France., Guigonis V; Department of Pediatrics, Hôpital Mère-Enfant, University Hospital of Limoges, Limoges, France., Weber S; Pediatric Nephrology, University Children's Hospital Marburg, Marburg, Germany., König J; Department of General Pediatrics, University Children's Hospital, Münster, Germany., Heidet L; APHP, Service de Néphrologie Pédiatrique, Hôpital Universitaire Necker-Enfants malades, Paris, France.; Centre De Référence Des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Paris, France., Moussaoui N; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France.; Filière ORphan KIdney Disease (ORKiD), Montpellier, France., Vu JP; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; University Paul Sabatier, Toulouse-III, Toulouse, France., Faguer S; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; University Paul Sabatier, Toulouse-III, Toulouse, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France.; Department of Nephrology and Organ Transplantation, University Hospital of Toulouse, and French Intensive Care Renal Network, Toulouse, France., Casemayou A; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; University Paul Sabatier, Toulouse-III, Toulouse, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France.; Department of Nephrology and Organ Transplantation, University Hospital of Toulouse, and French Intensive Care Renal Network, Toulouse, France., Prakash R; APHP, Service de Néphrologie Pédiatrique, Hôpital Universitaire Necker-Enfants malades, Paris, France.; Centre De Référence Des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Paris, France., Baudouin V; Nephrology Department, Robert Debré Hospital, APHP Nord, Paris University, Paris, France., Hogan J; Nephrology Department, Robert Debré Hospital, APHP Nord, Paris University, Paris, France., Alexandrou D; University College London Medical School, London, UK., Bockenhauer D; University College London, Department of Renal Medicine, London, UK.; Renal Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium., Bacchetta J; Centre de Référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France.; INSERM 1033, Faculté de Médecine Lyon Est, Lyon, France., Ranchin B; Centre de Référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France., Pruhova S; Department of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic., Zieg J; Department of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic., Lahoche A; Unité de néphrologie, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Okorn C; Department of Pediatrics II, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany., Antal-Kónya V; MTA-SE Lendület Nephrogenetic Laboratory, Budapest, Hungary.; Department of Pediatrics, Semmelweis University, Budapest, Hungary., Morin D; Néphrologie Pédiatrique, CHU de Montpellier, Montpellier, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Montpellier, France.; Université de Montpellier, Montpellier, France., Becherucci F; Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Florence, Italy., Habbig S; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Liebau MC; Department of Pediatrics and Center for Family Health, Center for Rare Diseases and Center for Molecular Medicine, University Hospital Cologne and Medical Faculty, University of Cologne, Cologne, Germany., Mauras M; Department of Pediatrics, Hôpital Nord, CHU de Saint-Etienne, Saint-Etienne, France., Nijenhuis T; Department of Nephrology, Radboud University Medical Center, Nijmegen, the Netherlands., Llanas B; Unité de Néphrologie Pédiatrique, Hôpital Pellegrin-Enfants, CHU de Bordeaux, Centre de Références des Maladies rénales rares du Sud-Ouest (SORARE), Bordeaux, France., Mekahli D; Department of Pediatric Nephrology, University Hospitals, Leuven, Belgium.; PKD Research Group, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium., Thumfart J; Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité Universitätsmedizin Berlin, Berlin, Germany., Tönshoff B; Department of Pediatrics I, University Children's Hospital Heidelberg, Heidelberg, Germany., Massella L; Division of Nephrology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Eckart P; Department of Pediatrics, University Hospital of Caen, Caen, France., Cloarec S; Service de Néphrologie Pédiatrique, Hôpital Clocheville, CHRU, Tours, France.; Centre De Compétence Maladies Rénales Rares, Filière ORphan KIdney Disease (ORKiD), France., Cruz A; Pediatric Nephrology, University Hospital Vall d'Hebron, Barcelona, Spain., Patzer L; Klinik für Kinder- und Jugendmedizin, Krankenhaus St. Elisabeth und St. Barbara, Halle/Saale, Germany., Roussey G; Service des Maladies Chroniques de l'Enfant, Hopital Mère Enfant, CHU Nantes, Nantes, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Nantes, France., Vrillon I; Service de Néphrologie Pédiatrique, Hôpital des Enfants, CHRU Nancy, Vandoeuvre les Nancy, France., Dunand O; Service de Néphrologie Pédiatrique, CHU Réunion site Félix GUYON, St Denis, Ile de La Réunion, France., Bessenay L; Department of Pediatric Nephrology, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France., Taroni F; Pediatric Nephrology, Dialysis and Transplantation Unit Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Zaniew M; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland., Louillet F; Département de Pédiatrie, Unité de Néphrologie-Hémodialyse, CHU Charles Nicolle, Rouen, France., Bergmann C; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany.; Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany., Schaefer F; Division of Pediatric Nephrology, Heidelberg University Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany., van Eerde AM; Department of Genetics, UMC Utrecht, Utrecht, The Netherlands., Schanstra JP; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; University Paul Sabatier, Toulouse-III, Toulouse, France., Decramer S; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; Department of Pediatric Internal Medicine, Rheumatology and Nephrology, Toulouse University Hospital, Toulouse, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France. |
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| Jazyk: | angličtina |
| Zdroj: | Kidney international reports [Kidney Int Rep] 2024 May 16; Vol. 9 (8), pp. 2514-2526. Date of Electronic Publication: 2024 May 16 (Print Publication: 2024). |
| DOI: | 10.1016/j.ekir.2024.05.007 |
| Abstrakt: | 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 (POU Conclusion: Patients with the 17q12del display a significantly better kidney survival than patients with other HNF1B variants; and for the latter, variants in the POU (© 2024 International Society of Nephrology. Published by Elsevier Inc.) |
| Databáze: | MEDLINE |
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