CASE REPORT article
Front. Genet.
Sec. Genetics of Common and Rare Diseases
Case Report: UMOD Gene Mutation and Phenotypic Overlap with REN in Autosomal Dominant Tubulointerstitial Kidney Disease
Provisionally accepted
- 1Hangzhou Hospital of Traditional Chinese Medicine, Hangzhou, China
- 2Zhejiang Chinese Medical University, Hangzhou, China
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Abstract: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare monogenic kidney disorder characterized by progressive tubular atrophy and interstitial fibrosis. It is primarily associated with pathogenic variants in genes such as UMOD (uromodulin), REN (renin), MUC1 (mucin 1), and HNF1B (hepatocyte nuclear factor 1-beta). We report a unique Chinese case of ADTKD-UMOD in a patient carrying a UMOD gene mutation. The clinical presentation was complex: in addition to the classic features of UMOD mutations (hyperuricemia and gout), the patient exhibited endocrine and metabolic abnormalities typically linked to REN gene defects (ADTKD-REN), including anemia, hypotension, and hyporeninemic hypoaldosteronism. However, renal biopsy and genetic testing ultimately confirmed the diagnosis as ADTKD caused by a heterozygous missense mutation in UMOD gene.
Keywords: ADTKD, Tubulointerstitial injury, gene mutation, UMOD, ren
Received: 07 Jul 2025; Accepted: 02 Dec 2025.
Copyright: © 2025 Xu, Chen, Shi, He, Li and Yu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Xianfa Li
Dongrong Yu
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