Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
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 associ...
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2024-08-01
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| author | Bénédicte Buffin-Meyer Juliette Richard Vincent Guigonis Stefanie Weber Jens König Laurence Heidet Nabila Moussaoui Jeanne-Pierrette Vu Stanislas Faguer Audrey Casemayou Richa Prakash Véronique Baudouin Julien Hogan Demi Alexandrou Detlef Bockenhauer Justine Bacchetta Bruno Ranchin Stepanka Pruhova Jakub Zieg Annie Lahoche Christine Okorn Violetta Antal-Kónya Denis Morin Francesca Becherucci Sandra Habbig Max C. Liebau Mathilde Mauras Tom Nijenhuis Brigitte Llanas Djalila Mekahli Julia Thumfart Burkhard Tönshoff Laura Massella Philippe Eckart Sylvie Cloarec Alejandro Cruz Ludwig Patzer Gwenaelle Roussey Isabelle Vrillon Olivier Dunand Lucie Bessenay Francesca Taroni Marcin Zaniew Ferielle Louillet Carsten Bergmann Franz Schaefer Albertien M. van Eerde Joost P. Schanstra Stéphane Decramer Gema Ariceta, MD, PhD Elisa Benetti, MD, PhD Marcus R. Benz, MD Anna Bjerre, MD, PhD Bernard R. Boudailliez, MD Antonia Bouts, MD, PhD Jens Drube Ann Christin Gjerstad, MD, PhD Augustina Jankauskiene, MD, PhD Eszter Jávorszky, PhD Nadine Jay, MD Martin Kirschstein, MD, PhD Nataša Marčun Varda, MD, PhD Olivier Niel, MD, PhD François Nobili, MD Christine Pietrement, MD, PhD Dovile Ruzgiene, MD Raphael Schild, MD Hagen Staude, MD Kálmán Tory, MD, PhD Michel Tsimaratos, MD, PhD Ulrike Walden, MD Hildegard Zappel, MD |
| author_facet | Bénédicte Buffin-Meyer Juliette Richard Vincent Guigonis Stefanie Weber Jens König Laurence Heidet Nabila Moussaoui Jeanne-Pierrette Vu Stanislas Faguer Audrey Casemayou Richa Prakash Véronique Baudouin Julien Hogan Demi Alexandrou Detlef Bockenhauer Justine Bacchetta Bruno Ranchin Stepanka Pruhova Jakub Zieg Annie Lahoche Christine Okorn Violetta Antal-Kónya Denis Morin Francesca Becherucci Sandra Habbig Max C. Liebau Mathilde Mauras Tom Nijenhuis Brigitte Llanas Djalila Mekahli Julia Thumfart Burkhard Tönshoff Laura Massella Philippe Eckart Sylvie Cloarec Alejandro Cruz Ludwig Patzer Gwenaelle Roussey Isabelle Vrillon Olivier Dunand Lucie Bessenay Francesca Taroni Marcin Zaniew Ferielle Louillet Carsten Bergmann Franz Schaefer Albertien M. van Eerde Joost P. Schanstra Stéphane Decramer Gema Ariceta, MD, PhD Elisa Benetti, MD, PhD Marcus R. Benz, MD Anna Bjerre, MD, PhD Bernard R. Boudailliez, MD Antonia Bouts, MD, PhD Jens Drube Ann Christin Gjerstad, MD, PhD Augustina Jankauskiene, MD, PhD Eszter Jávorszky, PhD Nadine Jay, MD Martin Kirschstein, MD, PhD Nataša Marčun Varda, MD, PhD Olivier Niel, MD, PhD François Nobili, MD Christine Pietrement, MD, PhD Dovile Ruzgiene, MD Raphael Schild, MD Hagen Staude, MD Kálmán Tory, MD, PhD Michel Tsimaratos, MD, PhD Ulrike Walden, MD Hildegard Zappel, MD |
| author_sort | Bénédicte Buffin-Meyer |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-e533139aeebc470cb7bb34b2d977986a |
| institution | Kabale University |
| issn | 2468-0249 |
| language | English |
| publishDate | 2024-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Kidney International Reports |
| spelling | doaj-art-e533139aeebc470cb7bb34b2d977986a2025-08-20T03:47:02ZengElsevierKidney International Reports2468-02492024-08-01982514252610.1016/j.ekir.2024.05.007Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 MicrodeletionsBénédicte Buffin-Meyer0Juliette Richard1Vincent Guigonis2Stefanie Weber3Jens König4Laurence Heidet5Nabila Moussaoui6Jeanne-Pierrette Vu7Stanislas Faguer8Audrey Casemayou9Richa Prakash10Véronique Baudouin11Julien Hogan12Demi Alexandrou13Detlef Bockenhauer14Justine Bacchetta15Bruno Ranchin16Stepanka Pruhova17Jakub Zieg18Annie Lahoche19Christine Okorn20Violetta Antal-Kónya21Denis Morin22Francesca Becherucci23Sandra Habbig24Max C. Liebau25Mathilde Mauras26Tom Nijenhuis27Brigitte Llanas28Djalila Mekahli29Julia Thumfart30Burkhard Tönshoff31Laura Massella32Philippe Eckart33Sylvie Cloarec34Alejandro Cruz35Ludwig Patzer36Gwenaelle Roussey37Isabelle Vrillon38Olivier Dunand39Lucie Bessenay40Francesca Taroni41Marcin Zaniew42Ferielle Louillet43Carsten Bergmann44Franz Schaefer45Albertien M. van Eerde46Joost P. Schanstra47Stéphane Decramer48Gema Ariceta, MD, PhDElisa Benetti, MD, PhDMarcus R. Benz, MDAnna Bjerre, MD, PhDBernard R. Boudailliez, MDAntonia Bouts, MD, PhDJens DrubeAnn Christin Gjerstad, MD, PhDAugustina Jankauskiene, MD, PhDEszter Jávorszky, PhDNadine Jay, MDMartin Kirschstein, MD, PhDNataša Marčun Varda, MD, PhDOlivier Niel, MD, PhDFrançois Nobili, MDChristine Pietrement, MD, PhDDovile Ruzgiene, MDRaphael Schild, MDHagen Staude, MDKálmán Tory, MD, PhDMichel Tsimaratos, MD, PhDUlrike Walden, MDHildegard Zappel, MDNational Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France; University Paul Sabatier, Toulouse-III, Toulouse, FranceDepartment 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, FranceDepartment of Pediatrics, Hôpital Mère-Enfant, University Hospital of Limoges, Limoges, FrancePediatric Nephrology, University Children's Hospital Marburg, Marburg, GermanyDepartment of General Pediatrics, University Children's Hospital, Münster, GermanyAPHP, 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, FranceNational 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, FranceNational Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France; University Paul Sabatier, Toulouse-III, Toulouse, FranceNational 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, FranceNational 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, FranceAPHP, 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, FranceNephrology Department, Robert Debré Hospital, APHP Nord, Paris University, Paris, FranceNephrology Department, Robert Debré Hospital, APHP Nord, Paris University, Paris, FranceUniversity College London Medical School, London, UKUniversity 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, BelgiumCentre de Référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France; INSERM 1033, Faculté de Médecine Lyon Est, Lyon, FranceCentre de Référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, FranceDepartment of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech RepublicDepartment of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech RepublicUnité de néphrologie, Hôpital Jeanne de Flandre, CHU Lille, Lille, FranceDepartment of Pediatrics II, University Hospital of Essen, University of Duisburg-Essen, Essen, GermanyMTA-SE Lendület Nephrogenetic Laboratory, Budapest, Hungary; Department of Pediatrics, Semmelweis University, Budapest, HungaryNéphrologie Pédiatrique, CHU de Montpellier, Montpellier, France; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Montpellier, France; Université de Montpellier, Montpellier, FranceNephrology and Dialysis Unit, Meyer Children’s Hospital IRCCS, Florence, ItalyDepartment of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, GermanyDepartment 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, GermanyDepartment of Pediatrics, Hôpital Nord, CHU de Saint-Etienne, Saint-Etienne, FranceDepartment of Nephrology, Radboud University Medical Center, Nijmegen, the NetherlandsUnité de Néphrologie Pédiatrique, Hôpital Pellegrin-Enfants, CHU de Bordeaux, Centre de Références des Maladies rénales rares du Sud-Ouest (SORARE), Bordeaux, FranceDepartment of Pediatric Nephrology, University Hospitals, Leuven, Belgium; PKD Research Group, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, BelgiumDepartment of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité Universitätsmedizin Berlin, Berlin, GermanyDepartment of Pediatrics I, University Children's Hospital Heidelberg, Heidelberg, GermanyDivision of Nephrology, Bambino Gesù Children's Hospital, IRCCS, Rome, ItalyDepartment of Pediatrics, University Hospital of Caen, Caen, FranceService de Néphrologie Pédiatrique, Hôpital Clocheville, CHRU, Tours, France; Centre De Compétence Maladies Rénales Rares, Filière ORphan KIdney Disease (ORKiD), FrancePediatric Nephrology, University Hospital Vall d’Hebron, Barcelona, SpainKlinik für Kinder- und Jugendmedizin, Krankenhaus St. Elisabeth und St. Barbara, Halle/Saale, GermanyService 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, FranceService de Néphrologie Pédiatrique, Hôpital des Enfants, CHRU Nancy, Vandoeuvre les Nancy, FranceService de Néphrologie Pédiatrique, CHU Réunion site Félix GUYON, St Denis, Ile de La Réunion, FranceDepartment of Pediatric Nephrology, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, FrancePediatric Nephrology, Dialysis and Transplantation Unit Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, ItalyDepartment of Pediatrics, University of Zielona Góra, Zielona Góra, PolandDépartement de Pédiatrie, Unité de Néphrologie-Hémodialyse, CHU Charles Nicolle, Rouen, FranceMedizinische Genetik Mainz, Limbach Genetics, Mainz, Germany; Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, GermanyDivision of Pediatric Nephrology, Heidelberg University Center for Pediatrics and Adolescent Medicine, Heidelberg, GermanyDepartment of Genetics, UMC Utrecht, Utrecht, The NetherlandsNational Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France; University Paul Sabatier, Toulouse-III, Toulouse, France; Joost P. Schanstra, National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.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; Correspondence: Stéphane Decramer, Department of Pediatric Internal Medicine, Rheumatology and Nephrology, Toulouse University Hospital, Toulouse, France.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.http://www.sciencedirect.com/science/article/pii/S2468024924017157chronic kidney diseasegenotype-phenotype correlationHNF1B diseaseoutcome |
| spellingShingle | Bénédicte Buffin-Meyer Juliette Richard Vincent Guigonis Stefanie Weber Jens König Laurence Heidet Nabila Moussaoui Jeanne-Pierrette Vu Stanislas Faguer Audrey Casemayou Richa Prakash Véronique Baudouin Julien Hogan Demi Alexandrou Detlef Bockenhauer Justine Bacchetta Bruno Ranchin Stepanka Pruhova Jakub Zieg Annie Lahoche Christine Okorn Violetta Antal-Kónya Denis Morin Francesca Becherucci Sandra Habbig Max C. Liebau Mathilde Mauras Tom Nijenhuis Brigitte Llanas Djalila Mekahli Julia Thumfart Burkhard Tönshoff Laura Massella Philippe Eckart Sylvie Cloarec Alejandro Cruz Ludwig Patzer Gwenaelle Roussey Isabelle Vrillon Olivier Dunand Lucie Bessenay Francesca Taroni Marcin Zaniew Ferielle Louillet Carsten Bergmann Franz Schaefer Albertien M. van Eerde Joost P. Schanstra Stéphane Decramer Gema Ariceta, MD, PhD Elisa Benetti, MD, PhD Marcus R. Benz, MD Anna Bjerre, MD, PhD Bernard R. Boudailliez, MD Antonia Bouts, MD, PhD Jens Drube Ann Christin Gjerstad, MD, PhD Augustina Jankauskiene, MD, PhD Eszter Jávorszky, PhD Nadine Jay, MD Martin Kirschstein, MD, PhD Nataša Marčun Varda, MD, PhD Olivier Niel, MD, PhD François Nobili, MD Christine Pietrement, MD, PhD Dovile Ruzgiene, MD Raphael Schild, MD Hagen Staude, MD Kálmán Tory, MD, PhD Michel Tsimaratos, MD, PhD Ulrike Walden, MD Hildegard Zappel, MD Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions Kidney International Reports chronic kidney disease genotype-phenotype correlation HNF1B disease outcome |
| title | Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions |
| title_full | Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions |
| title_fullStr | Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions |
| title_full_unstemmed | Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions |
| title_short | Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions |
| title_sort | renal and extrarenal phenotypes in patients with hnf1b variants and chromosome 17q12 microdeletions |
| topic | chronic kidney disease genotype-phenotype correlation HNF1B disease outcome |
| url | http://www.sciencedirect.com/science/article/pii/S2468024924017157 |
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