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Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions

B. Buffin-Meyer, J. Richard, V. Guigonis, S. Weber, J. König, L. Heidet, N. Moussaoui, JP. Vu, S. Faguer, A. Casemayou, R. Prakash, V. Baudouin, J. Hogan, D. Alexandrou, D. Bockenhauer, J. Bacchetta, B. Ranchin, S. Pruhova, J. Zieg, A. Lahoche,...

. 2024 ; 9 (8) : 2514-2526. [pub] 20240516

Status neindexováno Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc24018097

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 m2). 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.

APHP Service de Néphrologie Pédiatrique Hôpital Universitaire Necker Enfants malades Paris France

Centre De Compétence Maladies Rénales Rares Filière ORphan KIdney Disease France

Centre De Référence Des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte Paris France

Centre De Référence Des Maladies Rénales Rares du Sud Ouest Montpellier France

Centre De Référence Des Maladies Rénales Rares du Sud Ouest Nantes France

Centre De Référence Des Maladies Rénales Rares du Sud Ouest Toulouse University Hospital Toulouse France

Centre de Référence des Maladies Rénales Rares Hôpital Femme Mère Enfant Hospices Civils de Lyon Bron France

Département de Pédiatrie Unité de Néphrologie Hémodialyse CHU Charles Nicolle Rouen France

Department of General Pediatrics University Children's Hospital Münster Germany

Department of Genetics UMC Utrecht Utrecht The Netherlands

Department of Medicine 4 Faculty of Medicine Medical Center University of Freiburg Freiburg Germany

Department of Nephrology and Organ Transplantation University Hospital of Toulouse and French Intensive Care Renal Network Toulouse France

Department of Nephrology Radboud University Medical Center Nijmegen the Netherlands

Department of Pediatric Gastroenterology Nephrology and Metabolic Diseases Charité Universitätsmedizin Berlin Berlin Germany

Department of Pediatric Internal Medicine Rheumatology and Nephrology Toulouse University Hospital Toulouse France

Department of Pediatric Nephrology Centre Hospitalier Universitaire de Clermont Ferrand Clermont Ferrand France

Department of Pediatric Nephrology University Hospitals Leuven Belgium

Department of Pediatric Nephrology University Hospitals Leuven Leuven Belgium

Department of Pediatrics 1 University Children's Hospital Heidelberg Heidelberg Germany

Department of Pediatrics 2 University Hospital of Essen University of Duisburg Essen Essen Germany

Department of Pediatrics 2nd Faculty of Medicine Charles University Prague Czech Republic

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

Department of Pediatrics Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany

Department of Pediatrics Hôpital Mère Enfant University Hospital of Limoges Limoges France

Department of Pediatrics Hôpital Nord CHU de Saint Etienne Saint Etienne France

Department of Pediatrics Semmelweis University Budapest Hungary

Department of Pediatrics University Hospital of Caen Caen France

Department of Pediatrics University of Zielona Góra Zielona Góra Poland

Division of Nephrology Bambino Gesù Children's Hospital IRCCS Rome Italy

Division of Pediatric Nephrology Heidelberg University Center for Pediatrics and Adolescent Medicine Heidelberg Germany

Filière ORphan KIdney Disease Montpellier France

INSERM 1033 Faculté de Médecine Lyon Est Lyon France

Klinik für Kinder und Jugendmedizin Krankenhaus St Elisabeth und St Barbara Halle Saale Germany

Medizinische Genetik Mainz Limbach Genetics Mainz Germany

MTA SE Lendület Nephrogenetic Laboratory Budapest Hungary

National Institute of Health and Medical Research UMR 1297 Institute of Cardiovascular and Metabolic Disease Toulouse France

Néphrologie Pédiatrique CHU de Montpellier Montpellier France

Nephrology and Dialysis Unit Meyer Children's Hospital IRCCS Florence Italy

Nephrology Department Robert Debré Hospital APHP Nord Paris University Paris France

Pediatric Nephrology Dialysis and Transplantation Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

Pediatric Nephrology University Children's Hospital Marburg Marburg Germany

Pediatric Nephrology University Hospital Vall d'Hebron Barcelona Spain

PKD Research Group Department of Cellular and Molecular Medicine KU Leuven Leuven Belgium

Renal Unit Great Ormond Street Hospital for Children NHS Foundation Trust London UK

Service de Néphrologie Pédiatrique CHU Réunion site Félix GUYON St Denis Ile de La Réunion France

Service de Néphrologie Pédiatrique Hôpital Clocheville CHRU Tours France

Service de Néphrologie Pédiatrique Hôpital des Enfants CHRU Nancy Vandoeuvre les Nancy France

Service des Maladies Chroniques de l'Enfant Hopital Mère Enfant CHU Nantes Nantes France

Unité de néphrologie Hôpital Jeanne de Flandre CHU Lille Lille France

Unité de Néphrologie Pédiatrique Hôpital Pellegrin Enfants CHU de Bordeaux Centre de Références des Maladies rénales rares du Sud Ouest Bordeaux France

Université de Montpellier Montpellier France

University College London Department of Renal Medicine London UK

University College London Medical School London UK

University Paul Sabatier Toulouse 3 Toulouse France

Citace poskytuje Crossref.org

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$a Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions / $c B. Buffin-Meyer, J. Richard, V. Guigonis, S. Weber, J. König, L. Heidet, N. Moussaoui, JP. Vu, S. Faguer, A. Casemayou, R. Prakash, V. Baudouin, J. Hogan, D. Alexandrou, D. Bockenhauer, J. Bacchetta, B. Ranchin, S. Pruhova, J. Zieg, A. Lahoche, C. Okorn, V. Antal-Kónya, D. Morin, F. Becherucci, S. Habbig, MC. Liebau, M. Mauras, T. Nijenhuis, B. Llanas, D. Mekahli, J. Thumfart, B. Tönshoff, L. Massella, P. Eckart, S. Cloarec, A. Cruz, L. Patzer, G. Roussey, I. Vrillon, O. Dunand, L. Bessenay, F. Taroni, M. Zaniew, F. Louillet, C. Bergmann, F. Schaefer, AM. van Eerde, JP. Schanstra, S. Decramer, HNF1B variant study group
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$a 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 m2). 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.
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$a Vu, Jeanne-Pierrette $u National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France $u University Paul Sabatier, Toulouse-III, Toulouse, France
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$a Faguer, Stanislas $u National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France $u University Paul Sabatier, Toulouse-III, Toulouse, France $u Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France $u Department of Nephrology and Organ Transplantation, University Hospital of Toulouse, and French Intensive Care Renal Network, Toulouse, France
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$a Casemayou, Audrey $u National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France $u University Paul Sabatier, Toulouse-III, Toulouse, France $u Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France $u Department of Nephrology and Organ Transplantation, University Hospital of Toulouse, and French Intensive Care Renal Network, Toulouse, France
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$a Prakash, Richa $u APHP, Service de Néphrologie Pédiatrique, Hôpital Universitaire Necker-Enfants malades, Paris, France $u Centre De Référence Des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Paris, France
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$a Baudouin, Véronique $u Nephrology Department, Robert Debré Hospital, APHP Nord, Paris University, Paris, France
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$a Hogan, Julien $u Nephrology Department, Robert Debré Hospital, APHP Nord, Paris University, Paris, France
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$a Alexandrou, Demi $u University College London Medical School, London, UK
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$a Bockenhauer, Detlef $u University College London, Department of Renal Medicine, London, UK $u Renal Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK $u Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium
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$a Bacchetta, Justine $u Centre de Référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France $u INSERM 1033, Faculté de Médecine Lyon Est, Lyon, France
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$a Ranchin, Bruno $u Centre de Référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France
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$a Pruhova, Stepanka $u Department of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic
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$a Zieg, Jakub $u Department of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic
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$a Lahoche, Annie $u Unité de néphrologie, Hôpital Jeanne de Flandre, CHU Lille, Lille, France
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$a Okorn, Christine $u Department of Pediatrics II, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany
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$a Antal-Kónya, Violetta $u MTA-SE Lendület Nephrogenetic Laboratory, Budapest, Hungary $u Department of Pediatrics, Semmelweis University, Budapest, Hungary
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$a Becherucci, Francesca $u Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Florence, Italy
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$a Habbig, Sandra $u Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
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$a Liebau, Max C $u Department of Pediatrics and Center for Family Health, Center for Rare Diseases and Center for Molecular Medicine, University Hospital Cologne and Medical Faculty, University of Cologne, Cologne, Germany
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$a Mauras, Mathilde $u Department of Pediatrics, Hôpital Nord, CHU de Saint-Etienne, Saint-Etienne, France
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$a Nijenhuis, Tom $u Department of Nephrology, Radboud University Medical Center, Nijmegen, the Netherlands
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$a Tönshoff, Burkhard $u Department of Pediatrics I, University Children's Hospital Heidelberg, Heidelberg, Germany
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$a Massella, Laura $u Division of Nephrology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
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$a Eckart, Philippe $u Department of Pediatrics, University Hospital of Caen, Caen, France
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$a Patzer, Ludwig $u Klinik für Kinder- und Jugendmedizin, Krankenhaus St. Elisabeth und St. Barbara, Halle/Saale, Germany
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$a Roussey, Gwenaelle $u Service des Maladies Chroniques de l'Enfant, Hopital Mère Enfant, CHU Nantes, Nantes, France $u Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Nantes, France
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$a Vrillon, Isabelle $u Service de Néphrologie Pédiatrique, Hôpital des Enfants, CHRU Nancy, Vandoeuvre les Nancy, France
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$a van Eerde, Albertien M $u Department of Genetics, UMC Utrecht, Utrecht, The Netherlands
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$a Schanstra, Joost P $u National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France $u University Paul Sabatier, Toulouse-III, Toulouse, France
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$a Decramer, Stéphane $u National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France $u Department of Pediatric Internal Medicine, Rheumatology and Nephrology, Toulouse University Hospital, Toulouse, France $u Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France
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