Genetic study in young patients with chronic kidney disease stage G5 from unknown etiology. The GENSEN study design.

Autor:	Blasco M; Servicio de Nefrología y Trasplante Renal, Centro de Referencia en Enfermedad Glomerular Compleja del Sistema Nacional de Salud (CSUR), IDIBAPS, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain; RICORS2040, Madrid, Spain., Quiroga B; RICORS2040, Madrid, Spain; IIS-La Princesa, Servicio de Nefrología, Hospital Universitario de la Princesa, Madrid, Spain., García-Aznar JM; Healthincode, Área Clínica de Diagnóstico Genético - Nefrología, A Coruña, Spain., Torra R; RICORS2040, Madrid, Spain; Enfermedades renales hereditarias, Servicio de Nefrología, Fundació Puigvert, Institut d'Investigacions Biomèdiques (IIB-Sant Pau), Departamento de Medicina, Universitat Autònoma de Barcelona (UAB). Spain., Ortiz A; RICORS2040, Madrid, Spain; Servicio de Nefrología e Hipertensión, IIS-Fundación Jiménez Díaz UAM, Madrid, Spain; Departamento de Medicina, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain., de Sequera P; RICORS2040, Madrid, Spain; Servicio de Nefrología, Hospital Universitario Infanta Leonor, Madrid, Spain; Universidad Complutense de Madrid, Madrid, Spain.
Jazyk:	angličtina
Zdroj:	Nefrologia [Nefrologia (Engl Ed)] 2024 Jul-Aug; Vol. 44 (4), pp. 568-575. Date of Electronic Publication: 2024 Jul 25.
DOI:	10.1016/j.nefroe.2023.09.010
Abstrakt:	Introduction: Chronic kidney disease (CKD) of non-inherited etiology is one of the main causes of renal replacement therapy in our setting. Previous studies in other territories suggest that hereditary diseases could be one of the potential causes of this pathology, especially in younger patients. The GENSEN study will evaluate the presence of pathogenic genetic variants in subjects who have developed CKD category G5 before the age of 46 years, of non-inherited etiology. Methods: Observational, prospective, multicenter study, which evaluates the diagnostic utility of massive high-throughput sequencing (HTS) directed to a set of genes, in the identification of the cause of CKD. Patients from all over Spain will be included, from whom a blood or saliva sample will be taken and a panel of 529 genes associated with hereditary kidney disease will be analyzed. This publication communicates the study protocol. Conclusion: The GENSEN study will make it possible to evaluate the diagnostic performance of the gene panel study in young subjects in our setting with the development of CKD category G5 without a clear cause. An etiological diagnosis would offer potential benefits for patients and relatives (targeted therapies, clinical trials, detection of extrarenal manifestations, evaluation of relatives for live donation, estimation of the risk of recurrence in the renal graft, genetic counseling, among others) and would allow to apply this genetic study to the nephrology of our country. (Copyright © 2023 Sociedad Española de Nefrología. Published by Elsevier España, S.L.U. All rights reserved.)
Databáze:	MEDLINE
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