UMOD-related autosomal dominant tubulointerstitial kidney disease

Orpha code: 88950OMIM code: 162000

Definition

A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to <i>UMOD</i> 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.

Disease data
Classification

Clinical subtype

Synonyms
ADTKD-UMOD
Autosomalna dominująca kanalikowo-śródmiąższowa choroba nerek związana z UMOD
Familial juvenile hyperuricemic nephropathy type 1
MCKD2
Medullary cystic kidney disease type 2
UMOD-related ADTKD
Uromodulin-associated kidney disease
ORPHA code
88950
OMIM code
162000
ICD10 code
Q61.5
ICD11 code
-

No additional description.

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