Renal and Extrarenal Phenotypes in Patients With

HNF1B disease chronic kidney disease genotype-phenotype correlation outcome

Journal

Kidney international reports
ISSN: 2468-0249
Titre abrégé: Kidney Int Rep
Pays: United States
ID NLM: 101684752

Informations de publication

Date de publication:
Aug 2024
Historique:
received: 13 02 2024
revised: 09 04 2024
accepted: 06 05 2024
medline: 19 8 2024
pubmed: 19 8 2024
entrez: 19 8 2024
Statut: epublish

Résumé

Hepatocyte nuclear factor 1-beta ( This was a retrospective observational study involving 521 patients with Progression toward CKD stage 3 was significantly delayed in patients with the 17q12del compared to patients with Patients with the 17q12del display a significantly better kidney survival than patients with other

Identifiants

DOI: 10.1016/j.ekir.2024.05.007 PMID: 39156164 PMC: PMC11328578
pubmed: 39156164
doi: 10.1016/j.ekir.2024.05.007
pii: S2468-0249(24)01715-7
pmc: PMC11328578
doi:

Types de publication

Journal Article

Langues

eng

Pagination

2514-2526

Investigateurs

Gema Ariceta (G)
Elisa Benetti (E)
Marcus R Benz (MR)
Anna Bjerre (A)
Bernard R Boudailliez (BR)
Antonia Bouts (A)
Jens Drube (J)
Ann Christin Gjerstad (AC)
Augustina Jankauskiene (A)
Eszter Jávorszky (E)
Nadine Jay (N)
Martin Kirschstein (M)
Nataša Marčun Varda (NM)
Olivier Niel (O)
François Nobili (F)
Christine Pietrement (C)
Dovile Ruzgiene (D)
Raphael Schild (R)
Hagen Staude (H)
Kálmán Tory (K)
Michel Tsimaratos (M)
Ulrike Walden (U)
Hildegard Zappel (H)

Informations de copyright

© 2024 International Society of Nephrology. Published by Elsevier Inc.

Auteurs

Bénédicte 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.

Juliette 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.

Vincent Guigonis (V)

Department of Pediatrics, Hôpital Mère-Enfant, University Hospital of Limoges, Limoges, France.

Stefanie Weber (S)

Pediatric Nephrology, University Children's Hospital Marburg, Marburg, Germany.

Jens König (J)

Department of General Pediatrics, University Children's Hospital, Münster, Germany.

Laurence 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.

Nabila 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.

Jeanne-Pierrette 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.

Stanislas 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.

Audrey 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.

Richa 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.

Véronique Baudouin (V)

Nephrology Department, Robert Debré Hospital, APHP Nord, Paris University, Paris, France.

Julien Hogan (J)

Nephrology Department, Robert Debré Hospital, APHP Nord, Paris University, Paris, France.

Demi Alexandrou (D)

University College London Medical School, London, UK.

Detlef 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.

Justine 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.

Bruno Ranchin (B)

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

Stepanka Pruhova (S)

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

Jakub Zieg (J)

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

Annie Lahoche (A)

Unité de néphrologie, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.

Christine Okorn (C)

Department of Pediatrics II, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany.

Violetta Antal-Kónya (V)

MTA-SE Lendület Nephrogenetic Laboratory, Budapest, Hungary.
Department of Pediatrics, Semmelweis University, Budapest, Hungary.

Denis 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.

Francesca Becherucci (F)

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

Sandra Habbig (S)

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

Max C 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.

Mathilde Mauras (M)

Department of Pediatrics, Hôpital Nord, CHU de Saint-Etienne, Saint-Etienne, France.

Tom Nijenhuis (T)

Department of Nephrology, Radboud University Medical Center, Nijmegen, the Netherlands.

Brigitte 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.

Djalila Mekahli (D)

Department of Pediatric Nephrology, University Hospitals, Leuven, Belgium.
PKD Research Group, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium.

Julia Thumfart (J)

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

Burkhard Tönshoff (B)

Department of Pediatrics I, University Children's Hospital Heidelberg, Heidelberg, Germany.

Laura Massella (L)

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

Philippe Eckart (P)

Department of Pediatrics, University Hospital of Caen, Caen, France.

Sylvie Cloarec (S)

Service de Néphrologie Pédiatrique, Hôpital Clocheville, CHRU, Tours, France.
Centre De Compétence Maladies Rénales Rares, Filière ORphan KIdney Disease (ORKiD), France.

Alejandro Cruz (A)

Pediatric Nephrology, University Hospital Vall d'Hebron, Barcelona, Spain.

Ludwig Patzer (L)

Klinik für Kinder- und Jugendmedizin, Krankenhaus St. Elisabeth und St. Barbara, Halle/Saale, Germany.

Gwenaelle 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.

Isabelle Vrillon (I)

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

Olivier Dunand (O)

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

Lucie Bessenay (L)

Department of Pediatric Nephrology, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.

Francesca Taroni (F)

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

Marcin Zaniew (M)

Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland.

Ferielle Louillet (F)

Département de Pédiatrie, Unité de Néphrologie-Hémodialyse, CHU Charles Nicolle, Rouen, France.

Carsten Bergmann (C)

Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany.
Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany.

Franz Schaefer (F)

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

Albertien M van Eerde (AM)

Department of Genetics, UMC Utrecht, Utrecht, The Netherlands.

Joost P 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.

Stéphane 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.

Classifications MeSH