Estudio genético en pacientes jóvenes con enfermedad renal crónica avanzada de etiología no filiada. Diseño del estudio GENSEN

Abstract

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.