Autosomal-dominant tubulointerstitial kidney disease with a novel UMOD mutation, overlapping with Sjogren's syndrome: a case report.

doi:10.1007/s13730-024-00915-w

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Article

Autosomal-dominant tubulointerstitial kidney disease with a novel UMOD mutation, overlapping with Sjogren's syndrome: a case report.

CEN case reports - 1 Apr 2025

Nobayashi Hiroki, Iida Tomomichi, Fujimaru Takuya, Mori Takayasu, Ito Yumi, Ueda Hiroyuki, Sohara Eisei, Uchida Shinichi, Aoyagi Ryuji, Yokoo Takashi

Abstract excerpt

Autosomal-dominant tubulointerstitial kidney disease caused by UMOD (encoding uromodulin) mutation (ADTKD-UMOD) is a rare hereditary disease. A strong family history of hyperuricemia or gout and inherited kidney disease raises the suspicion of ADTKD-UMOD. Genetic testing can confirm the diagnosis without a kidney biopsy. However, when complicated by other diseases that can cause tubulointerstitial disease, renal...

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Topics

Humans
Female
Sjogren's Syndrome
Adult
Uromodulin
Kidney

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Nephritis, Interstitial

Biopsy

Polycystic Kidney, Autosomal Dominant

Genetic Testing

Mutation

Gout

Hyperuricemia

Source

Open in PubMed Open full text

Identifiers

PMID: 39012617
DOI: 10.1007/s13730-024-00915-w
PMCID: PMC11958869

Genes

UMOD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 15 Oct 2026.

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