Genetic study in young patients with chronic kidney disease stage G5 from unknown etiology. The GENSEN study design Estudio genético en pacientes jóvenes con enfermedad renal crónica avanzada de etiología no filiada. Diseño del estudio GENSEN
Blasco Pelicano, Miquel (Hospital Clínic i Provincial de Barcelona)
Quiroga, Borja (Hospital Universitario de la Princesa (Madrid))
García-Aznar, José M. (Healthincode)
Torra Balcells, Roser (Institut de Recerca Sant Pau)
Ortiz, Alberto (Universidad Autónoma de Madrid)
de Sequera, Patricia (Universidad Complutense de Madrid)
Universitat Autònoma de Barcelona

Data:	2024
Resum:	Introduction: Chronic kidney disease (CKD) of unknown etiology is one of the main causes of renal replacement therapy in our environment. 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, of unknown etiology. Methods: Observational, prospective and multicenter study, which evaluates the diagnostic usefulness of massive high-throughput sequencing (HTS) directed at a set of genes, in identifying the cause of CKD. Patients from all over Spain will be included, from whom a blood or saliva sample will be extracted, subsequently analyzing a panel of 529 genes associated with hereditary kidney disease. This publication communicates the study protocol and design. Conclusion: The GENSEN study will allow to evaluate the diagnostic performance of a gene panel study in young subjects from our environment with the development of category G5 CKD 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 living kidney donation, estimation of the risk of recurrence in the kidney graft, genetic counseling, among others) and would allow genetic study to be brought closer to nephrology in our country.
Ajuts:	Instituto de Salud Carlos III RD21/0005/0001 Instituto de Salud Carlos III PIPI22/00240 Fundació la Marató de TV3 202026-10 Instituto de Salud Carlos III PI22/00361 Fundació la Marató de TV3 202036-30
Nota:	Altres ajuts: La investigación de AO está financiada SPACKDc PMP21/00109, FEDER funds y COST Action PERMEDIK CA21165, supported by COST (European Cooperation in Science and Technology). PREVENTCKD Consortium. Project ID: 101101220 Programme: EU4H. DG/Agency: HADEA: 2023-2024.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.
Llengua:	Castellà
Document:	Article ; recerca ; Versió publicada
Matèria:	Etiological diagnosis ; Chronic kidney disease ; Hereditary diseases ; Genetic study ; Unknown etiology ; Precision medicine
Publicat a:	Nefrología (Badalona. English), Vol. 44 Núm. 4 (enero 2024) , p. 568-575, ISSN 2013-2514

DOI: 10.1016/j.nefro.2023.09.002

8 p, 769.9 KB

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