Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to

autosomal dominant uromodulin kidney disease genotype phenotype rs4293393 uromodulin

Journal

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

Informations de publication

Date de publication:
Sep 2020
Historique:
received: 31 03 2020
revised: 12 06 2020
accepted: 24 06 2020
entrez: 21 9 2020
pubmed: 22 9 2020
medline: 22 9 2020
Statut: epublish

Résumé

Autosomal dominant tubulo-interstitial kidney disease due to An international group of collaborators collected clinical and genetic data on 722 affected individuals from 249 families with 125 mutations, including 28 new mutations. The median age of ESKD was 47 years. Men were at a much higher risk of progression to ESKD (hazard ratio 1.78, The allele frequency of the minor rs4293393 allele was only 11.6% versus the 19% expected ( We report the clinical characteristics associated with 125

Identifiants

DOI: 10.1016/j.ekir.2020.06.029 PMID: 32954071 PMC: PMC7486199
pubmed: 32954071
doi: 10.1016/j.ekir.2020.06.029
pii: S2468-0249(20)31352-8
pmc: PMC7486199
doi:

Types de publication

Journal Article

Langues

eng

Pagination

1472-1485

Subventions

Organisme : NIDDK NIH HHS
ID : K08 DK089015
Pays : United States
Organisme : NIDDK NIH HHS
ID : P30 DK020579
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK105056
Pays : United States
Organisme : NIDDK NIH HHS
ID : R03 DK106451
Pays : United States

Informations de copyright

© 2020 International Society of Nephrology. Published by Elsevier Inc.

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Auteurs

Kendrah Kidd (K)

Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
Research Unit of Rare Diseases, Department of Pediatric and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.

Petr Vylet'al (P)

Research Unit of Rare Diseases, Department of Pediatric and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.

Céline Schaeffer (C)

Molecular Genetics of Renal Disorders, Division of Genetics and Cell Biology, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy.

Eric Olinger (E)

University of Zurich, Institute of Mechanisms of Inherited Kidney Disorders, Zurich, Switzerland.

Martina Živná (M)

Research Unit of Rare Diseases, Department of Pediatric and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.

Kateřina Hodaňová (K)

Research Unit of Rare Diseases, Department of Pediatric and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.

Victoria Robins (V)

Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.

Emily Johnson (E)

Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.

Abbigail Taylor (A)

Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.

Lauren Martin (L)

Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.

Claudia Izzi (C)

Division of Nephrology and Dialysis, University of Brescia and Montichiari Hospital, Brescia, Italy.
Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and Montichiari Hospital, Brescia, Italy.

Sofia C Jorge (SC)

Department of Nephrology and Renal Transplant of Centro Hospitalar Universitário Lisboa Norte, EPE, Lisbon, Portugal.

Joaquim Calado (J)

ToxOmics, Centre for Toxicogenomics and Human Health, NOVA Medical School, New University of Lisbon, Lisbon, Portugal.

Rosa J Torres (RJ)

Foundation for Biomedical Research of La Paz University Hospital (FIBHULP), IdiPaz, Madrid, Spain.
Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.

Karl Lhotta (K)

Department of Internal Medicine, Academic Teaching Hospital Feldkirch, Feldkirch, Austria.

Dominik Steubl (D)

Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.

Daniel P Gale (DP)

Department of Renal Medicine, University College London, London, UK.

Christine Gast (C)

Wessex Kidney Centre, Queen Alexandra Hospital, Portsmouth Hospitals NHS Trust, Portsmouth, UK.
Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southhampton, Southhampton, UK.

Eva Gombos (E)

Department of Nephrology and Gastroenterology, Heim Pál Hospital for Children, Budapest, Hungary.

Hannah C Ainsworth (HC)

Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.

Ying Maggie Chen (YM)

Division of Nephrology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.

Jorge Reis Almeida (JR)

Multi-User Laboratory to Support Research in Nephrology and Medical Sciences (LAMAP), Federal Fluminense University, Niterói, Rio de Janeiro, Brazil.

Cintia Fernandes de Souza (CF)

Multi-User Laboratory to Support Research in Nephrology and Medical Sciences (LAMAP), Federal Fluminense University, Niterói, Rio de Janeiro, Brazil.

Catarina Silveira (C)

GenoMed SA, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.

Rita Raposeiro (R)

GenoMed SA, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.

Nelson Weller (N)

Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.

Peter J Conlon (PJ)

Nephrology Department, Beaumont Hospital, Dublin, Ireland.
Department of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland.

Susan L Murray (SL)

Nephrology Department, Beaumont Hospital, Dublin, Ireland.
Department of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland.

Katherine A Benson (KA)

Nephrology Department, Beaumont Hospital, Dublin, Ireland.
Department of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland.

Gianpiero L Cavalleri (GL)

Nephrology Department, Beaumont Hospital, Dublin, Ireland.
Department of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland.

Miroslav Votruba (M)

Research Unit of Rare Diseases, Department of Pediatric and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.

Alena Vrbacká (A)

Research Unit of Rare Diseases, Department of Pediatric and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.

Antonio Amoroso (A)

Medical Genetics, Department of Medical Sciences, University of Turin, Turin, Italy.

Daniela Gianchino (D)

Department of Clinical and Biological Sciences, University of Turin, Turin, Italy.

Gianluca Caridi (G)

Department of Nephrology and Transplantation, Istituto G. Gaslini Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Genoa, Italy.

Gian Marco Ghiggeri (GM)

Department of Nephrology and Transplantation, Istituto G. Gaslini Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Genoa, Italy.

Jasmin Divers (J)

Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.

Francesco Scolari (F)

Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and Montichiari Hospital, Brescia, Italy.

Olivier Devuyst (O)

University of Zurich, Institute of Mechanisms of Inherited Kidney Disorders, Zurich, Switzerland.
Division of Nephrology, UCLouvain Medical School, Brussels, Belgium.

Luca Rampoldi (L)

Molecular Genetics of Renal Disorders, Division of Genetics and Cell Biology, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy.

Stanislav Kmoch (S)

Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
Research Unit of Rare Diseases, Department of Pediatric and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.

Anthony J Bleyer (AJ)

Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
Research Unit of Rare Diseases, Department of Pediatric and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.

Classifications MeSH