Hemizygous loss of function mutations in
CLCN5
Dent disease
chronic kidney disease
nephrocalcinosis
nephrolithiasis
Journal
Clinical kidney journal
ISSN: 2048-8505
Titre abrégé: Clin Kidney J
Pays: England
ID NLM: 101579321
Informations de publication
Date de publication:
Jan 2023
Jan 2023
Historique:
received:
28
03
2022
entrez:
2
2
2023
pubmed:
3
2
2023
medline:
3
2
2023
Statut:
epublish
Résumé
Dent disease type 1 is suspected in the presence of a complete phenotype of low molecular weight (LMW) proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, nephrolithiasis, haematuria, hypophosphatemia or chronic kidney disease (CKD). We present two brothers who presented with CKD alone. In the absence of typical clinical features, further assessment of LMW proteinuria and hypercalciuria was not undertaken. Whole-genome sequencing revealed hemizygous loss of function mutations in chloride voltage-gated channel 5 (
Identifiants
pubmed: 36726441
doi: 10.1093/ckj/sfac127
pii: sfac127
pmc: PMC9871842
doi:
Types de publication
Journal Article
Langues
eng
Pagination
192-194Informations de copyright
© The Author(s) 2022. Published by Oxford University Press on behalf of the ERA.
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