Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD

Abstract excerpt

Bilateral renal cystic disease presenting as chronic kidney disease (CKD) in adults is most commonly due to autosomal dominant polycystic kidney disease (ADPKD). Genetic investigation of ADPKD cohorts identifies the underlying PKD1 (77%) or PKD2 mutation (15%) and up to 8% of cases remain as “no PKD mutation detected” (NMD).1 Molecular characterization of NMD-ADPKD cases by genome level sequencing such as whole...

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