MUC1-related autosomal dominant tubulointerstitial kidney disease

Orpha code: 88949OMIM code: 174000

Definition

A rare autosomal dominant tubulointerstitial kidney (ADTKD) disease due to <i>MUC1</i> mutations characterized clinically by a bland urinalysis (absence of blood or protein in the urine), and chronic kidney disease leading to end-stage kidney disease (ESKD) between 20 and 80 years.

Disease data
Classification

Clinical subtype

Synonyms
ADTKD-MUC1
Autosomalna dominująca kanalikowo-śródmiąższowa choroba nerek związana z MUC1
MCKD1
MUC1-related medullary cystic kidney disease
MUCI-related ADTKD
Medullary cystic kidney disease type 1
ORPHA code
88949
OMIM code
174000
ICD10 code
Q61.5
ICD11 code
-

No additional description.

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