Management of inherited kidney diseases: A practical approach from S.E.N. working groups and RICORS-ISCIII network

Le résumé fourni par la source

Inherited kidney diseases (IKD) contribute more than previously recognized to the burden of kidney failure requiring kidney replacement therapy (KRT) and represent one of the leading causes of prevalent KRT in Europe, particularly among younger patients. However, they remain frequently underdiagnosed, and gaps persist in the routine incorporation of genetic concepts, diagnostic tools, and recent therapeutic advances into nephrology practice. This position paper from the GENSEN project investigators and Hereditary Nephropathies (GTERH) Working Groups of the Spanish Society of Nephrology (S.E.N.), in collaboration with the renal research network RICORS2040renal‑ISCIII, provides a practical framework to support nephrologists in the evaluation and management of hereditary kidney diseases. It outlines when to suspect a genetic etiology, how to select the most appropriate genetic test, and how to integrate genomic findings into routine clinical decision‑making. We also review the clinical impact of a positive genetic diagnosis, the role of genetic counselling, and key barriers and strategies for implementing genetic testing in nephrology, incorporating the patient perspective.

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