Genetic renal disorders and genomic screening of renal disease

Genetic kidney disease (GKD) accounts for 10 –15% of end-stage kidney disease (ESKD). The introduction of next-generation genomic sequencing has improved the diagnostic yield for pathogenic gene variants associated with GKD and is increasingly available to UK clinicians. An early disease onset, family history and extra-renal features are use ful but not essential criteria for diagnosing GKD. Autosomal dominant polycystic kidney disease (ADPKD), the most common monogenic cause of ESKD, is characterized by cyst development, hypertension and progressive chronic kidney disease (CKD).

Source: Medicine - January 10, 2023 Category: Internal Medicine Authors: Osasuyi Iyasere, Emily Craft Tags: Genetic disorders Source Type: research