Diagnosi molecolare delle nefropatie ereditarie: applicazioni cliniche dei pannelli Next Generation Sequencing

Le résumé fourni par la source

Inherited kidney diseases (IKDs) represent a heterogeneous group of disorders that can manifest at any age and account for a significant proportion of chronic kidney disease (CKD) cases with unknown etiology. Their genetic complexity and phenotypic variability often make etiological diagnosis challenging. This review aims to explore the contribution of next generation sequencing (NGS)-based multigene panel analysis to the diagnostic process of inherited nephropathies, highlighting its clinical utility and the underlying genetic landscape. We provide an overview of the main categories of IKDs, including glomerulopathies, tubulopathies, metabolic nephropathies, and congenital anomalies of the kidney and urinary tract, and their associated genes. We also discuss recent advances in molecular diagnostics, focusing on the role of NGS technologies in improving diagnostic yield. Several studies have shown that the implementation of gene panels and whole-exome sequencing can significantly increase diagnostic accuracy in both pediatric and adult CKD patients, enabling more tailored therapeutic strategies and improved genetic counseling. Despite these advances, challenges remain, including variant interpretation, phenotypic heterogeneity, and limited accessibility to genomic testing in clinical practice. NGS-based multigene panel analysis is emerging as a powerful tool in the diagnostic pathway for IKDs. Its integration into routine clinical practice has the potential to optimize disease classification, improve prognosis, and enable precision medicine approaches in nephrology.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.