Clinical and genetic analysis of Dent' s disease in 6 Chinese children with low molecular weight proteinuria.
- Author:
Bi-zhen ZHU
1
;
Peng LI
;
Jian-ping HUANG
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Child; Child, Preschool; Chloride Channels; genetics; Dent Disease; complications; diagnosis; genetics; Humans; Hypercalciuria; diagnosis; genetics; Male; Mutation; Pedigree; Proteinuria; diagnosis; etiology; genetics
- From: Chinese Journal of Pediatrics 2010;48(5):329-333
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the clinical features and gene mutations of 6 Chinese children with Dent's disease.
METHODThe clinical and laboratory data of 6 children with Dent's disease were summarized. CLCN5 gene was analyzed using PCR amplification and DNA sequencing.
RESULTAll the six patients presented with low molecular weight proteinuria and hypercalciuria, including 3/6 hematuria, 4/6 nephrocalcinosis, 3/6 hypophosphatemia, 1/6 rickets. Six mutations of the CLCN5 gene were revealed, including L594fsX595, R637X, R467X, IVS4-2A > G, S244L and V505G. The mutation L594fsX595, IVS4-2A > G and V505G was never reported before.
CONCLUSIONLow molecular weight proteinuria and hypercalciuria were the main clinical features of the six Chinese boys with Dent's disease. Dent's disease could be associated with a Bartter-like syndrome, which make the gene diagnosis more important.
