UMOD-related autosomal dominant tubulointerstitial kidney disease

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Name:
UMOD-related autosomal dominant tubulointerstitial kidney disease
Description:
A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to UMOD mutations that is clinically characterized by bland urinalysis (absence of blood or protein in the urine), chronic kidney disease (CKD) leading to end-stage kidney disease (ESKD) between 20 and 80 years, and gout occurring in 50% of affected individuals.
ORPHAcode:
88950
Synonyms:
ADTKD-UMOD
Familial juvenile hyperuricemic nephropathy type 1
MCKD2
Medullary cystic kidney disease type 2
UMOD-related ADTKD
Uromodulin-associated kidney disease
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14