MUC1-related autosomal dominant tubulointerstitial kidney disease

Orpha code: 88949OMIM code: 174000

Definicja

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
Klasyfikacja

Clinical subtype

Synonimy
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
Kod ORPHA
88949
Kod OMIM
174000
Kod ICD10
Q61.5
Kod ICD11
-

No additional description.

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