UMOD-related autosomal dominant tubulointerstitial kidney disease
Synonyms: ADTKD-UMOD | Familial juvenile hyperuricemic nephropathy type 1 | MCKD2 | Medullary cystic kidney disease type 2 | UMOD-related ADTKD | Uromodulin-associated kidney disease
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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UMOD-related autosomal dominant tubulointerstitial kidney disease?
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