Open AccessAutosomal dominant tubulointerstitial kidney disease with a novel heterozygous missense mutation in the uromodulin gene: A case report
Author(s) -
Liling Zhang,
Jiaru Lin,
Tingting Zhu,
Qi Liu,
Dongmei Zhang,
Linwang Gan,
Ying Li,
Santao Ou
Publication year - 2021
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v9.i33.10249
Subject(s) - tamm–horsfall protein , missense mutation , hyperuricemia , medicine , gout , kidney disease , disease , mutation , genetics , kidney , gene , uric acid , biology
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a progressive chronic disease that is inherited in an autosomal dominant fashion. Symptoms include hyperuricemia, gout, interstitial nephritis, renal cysts, and progressive renal damage that can lead to end-stage renal disease. Mutations in the uromodulin gene ( UMOD ) characterize the ADTKD-UMOD clinical subtype of this disease. To date, > 100 UMOD mutations have been identified. Early diagnosis of ADTKD-UMOD is important to treat the disease, slow down disease progression, and facilitate the identification of potentially affected family members.