A novel and two recurrent UMOD mutations in autosomal dominant tubulointerstitial kidney disease (ADTKD): a case series and literature review.
Yedong Yu, Jianguang Gong, Lin Liu et al.
✦ AI-curated · Sources linked
Case in brief
Three patients with autosomal dominant tubulointerstitial kidney disease (ADTKD) underwent next-generation sequencing-based evaluation. Testing identified heterozygous UMOD variants: p. Tyr559Cys, described as novel; p. Ala500Val, previously recorded in databases but with limited clinical details; and p. Leu66Pro, previously published but identified in a new family. The report presents the patients’ clinical data and variant interpretation alongside a literature review, adding these findings to the reported UMOD-associated ADTKD spectrum.
What made this case unusual
The genetic findings included a novel UMOD variant and two variants with distinct prior-reporting histories: one with limited clinical detail and one identified in a new family.
Diagnostic / clinical pearl
Consider UMOD testing in the evaluation of suspected ADTKD; next-generation sequencing can identify variants that help support diagnosis and interpretation.
Why it matters
The reported variants add to the UMOD mutation spectrum and underscore phenotypic variability that may affect clinical recognition.