A novel and two recurrent UMOD mutations in autosomal dominant tubulointerstitial kidney disease (ADTKD): a case series and literature review.

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare hereditary disorder characterized by slowly progressive loss of kidney function with absent or mild proteinuria and tubulointerstitial fibrosis. Mutations in the UMOD gene represent one of the primary genetic etiologies of ADTKD. This study presented the clinical data and genetic variant interpretation of three ADTKD patients diagnosed via a next-generation sequencing (NGS)-based diagnostic workflow at the Department of Nephrology, Zhejiang Provincial People's Hospital, along with a review of relevant literature. Genetic analysis revealed three heterozygous UMOD variants: a novel p. Tyr559Cys, a variant previously recorded in databases (p. Ala500Val) but with limited clinical details, and a previously published variant (p. Leu66Pro) in a new family. This report contributes to expanding the mutation spectrum of UMOD and highlights its phenotypic variability, thereby enhancing clinical recognition and promoting timely diagnosis.