Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease.

doi:10.1093/ndt/gfab268

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Article

Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 13 Feb 2023

Mabillard Holly, Sayer John A, Olinger Eric

Abstract excerpt

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a clinical entity defined by interstitial fibrosis with tubular damage, bland urinalysis and progressive kidney disease. Mutations in UMOD and MUC1 are the most common causes of ADTKD but other rarer (REN, SEC61A1), atypical (DNAJB11) or heterogeneous (HNF1B) subtypes have been described. Raised awareness, as well as the implementation of...

Topics

Humans
Polycystic Kidney Diseases
Mutation
Renal Insufficiency, Chronic
Fibrosis
Uromodulin

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Identifiers

PMID: 34519781
DOI: 10.1093/ndt/gfab268
PMCID: PMC9923703

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