MUC1-related autosomal dominant tubulointerstitial kidney disease

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Name:
MUC1-related autosomal dominant tubulointerstitial kidney disease
Description:
A rare autosomal dominant tubulointerstitial kidney (ADTKD) disease due to MUC1 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.
ORPHAcode:
88949
Synonyms:
ADTKD-MUC1
MCKD1
MUC1-related medullary cystic kidney disease
MUCI-related ADTKD
Medullary cystic kidney disease type 1
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14