| Literature DB >> 32828237 |
Kaice A LaFavers1, Tarek M El-Achkar2.
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. Published by Elsevier Inc.Entities:
Year: 2020 PMID: 32828237 PMCID: PMC8063263 DOI: 10.1016/j.kint.2020.05.046
Source DB: PubMed Journal: Kidney Int ISSN: 0085-2538 Impact factor: 10.612