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Autosomal dominant tubulointerstitial kidney disease: a new tool to guide genetic testing
Kaice A LaFavers1, Tarek M El-Achkar2
1Division of Nephrology, Department of Medicine, Indiana University, Indianapolis, Indiana, USA.
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.
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