Autosomal dominant tubulointerstitial kidney disease: a new tool to guide genetic testing

Kidney Int. 2020 Sep;98(3):549-552. doi: 10.1016/j.kint.2020.05.046.

Abstract

Autosomal dominant tubulointerstitial disease (ADTKD) is a dominantly inherited progressive nonglomerular disease. Several factors, such as a nonspecific clinical presentation and relative rarity, impede the phenotyping of ADTKD into clinically relevant subtypes and impair the appropriate implementation of genetic testing. The study by Olinger et al. describes the largest multicenter ADTKD cohort, which is likely to become a key resource. The authors also provide a new clinical tool that could guide diagnosis and genetic testing.

Publication types

  • Multicenter Study

MeSH terms

  • Genetic Testing
  • Humans
  • Mucin-1 / genetics
  • Mutation
  • Nephritis, Interstitial* / diagnosis
  • Nephritis, Interstitial* / genetics
  • Polycystic Kidney, Autosomal Dominant* / diagnosis
  • Polycystic Kidney, Autosomal Dominant* / genetics

Substances

  • Mucin-1