Uromodulin-related autosomal-dominant tubulointerstitial kidney disease-pathogenetic insights based on a case.
ADTKD-UMOD
hyperuricaemia
tubulointerstitial chronic kidney disease
urinary tract infection
uromodulin
Journal
Clinical kidney journal
ISSN: 2048-8505
Titre abrégé: Clin Kidney J
Pays: England
ID NLM: 101579321
Informations de publication
Date de publication:
Apr 2019
Apr 2019
Historique:
received:
17
05
2018
entrez:
13
4
2019
pubmed:
13
4
2019
medline:
13
4
2019
Statut:
epublish
Résumé
Uromodulin-related autosomal-dominant tubulointerstitial kidney disease (ADTKD-UMOD) is a rare monogenic disorder that is characterized by tubulointerstitial fibrosis and progression of kidney function loss, and may progress to end-stage renal disease. It is usually accompanied by hyperuricaemia and gout. Mutations in the uromodulin gene (
Identifiants
pubmed: 30976393
doi: 10.1093/ckj/sfy094
pii: sfy094
pmc: PMC6452205
doi:
Types de publication
Journal Article
Langues
eng
Pagination
172-179Références
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