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  3. Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study.

Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study.

Fecha de publicación: Fecha Ahead of Print:

Autores de IDIVAL

Autores ajenos al IDIVAL

  • Blasco M
  • Quiroga B
  • García-Aznar JM
  • Castro-Alonso C
  • Fernández-Granados SJ
  • Luna E
  • Ossorio M
  • Izquierdo MJ
  • Sanchez-Ospina D
  • Castañeda-Infante L
  • Mouzo R
  • Cao M
  • Besada-Cerecedo ML
  • Pan-Lizcano R
  • Torra R
  • Ortiz A
  • de Sequera P
  • GENSEN Study Investigators

Unidades

Abstract

RATIONALE & OBJECTIVE: Chronic kidney disease (CKD) of unknown etiology (CKDUE) is one of the main global causes of kidney failure. While genetic studies may identify an etiology in these patients, few studies have implemented genetic testing of CKDUE in population-based series of patients which was the focus of the GENSEN. STUDY DESIGN: Case series. SETTINGS & PARTICIPANTS: 818 patients aged =45 years at 51 Spanish centers with CKDUE, and either an estimated GFR <15 mL/min/1.73 m(2) or treatment with maintenance dialysis or transplantation. OBSERVATIONS: Genetic testing for 529 genes associated to inherited nephropathies using high-throughput sequencing (HTS). Pathogenic and/or likely pathogenic (P/LP) gene variants concordant with the inheritance pattern were detected in 203 (24.8%) patients. Variants in type IV collagen genes were the most frequent (COL4A5, COL4A4, COL4A3; 35% of total gene variants), followed by NPHP1, PAX2, UMOD, MUC1 and INF2 (7.3%, 5.9%, 2.5%, 2.5% and 2.5% respectively). Overall, 87 novel variants classified as P/LP were identified. The top 5 most common previously undiagnosed diseases were Alport syndrome spectrum (35% of total positive reports), genetic podocytopathies (19%), nephronophthisis (11%), autosomal dominant tubulointerstitial kidney disease (7%) and congenital anomalies of the kidney and urinary tract (CAKUT: 5%). Family history of kidney disease was reported by 191 (23.3 %) participants and by 65/203 (32.0%) patients with P/LP variants. LIMITATIONS: Missing data. Selection bias resulting from voluntary enrollment. CONCLUSIONS: Genomic testing with HTS identified a genetic cause of kidney disease in approximately one quarter of young patients with CKDUE and advanced kidney disease. These findings suggest that genetic studies are a potentially useful tool for the evaluation of people with CKDUE.

Copyright © 2024. Published by Elsevier Inc.

Datos de la publicación

ISSN/ISSNe:
0272-6386, 1523-6838

AMERICAN JOURNAL OF KIDNEY DISEASES  W B SAUNDERS CO-ELSEVIER INC

Tipo:
Article
Páginas:
-
PubMed:
38972501
Enlace a otro recurso:
www.sciencedirect.com

Citas Recibidas en Web of Science: 9

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Keywords

  • Chronic Kidney Disease (CKD); Etiological Diagnosis; Gene Panel; Genetics; Hereditary Kidney Diseases; Precision Medicine; Unknown Etiology

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