[Clinical and genetic analysis of Dent' s disease in 6 Chinese children with low molecular weight proteinuria].
OBJECTIVE
To analyze the clinical features and gene mutations of 6 Chinese children with Dent's disease.


METHODS
The clinical and laboratory data of 6 children with Dent's disease were summarized. CLCN5 gene was analyzed using PCR amplification and DNA sequencing.


RESULTS
All 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.


CONCLUSIONS
Low 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.
Zhu
Bi-zhen
BZ
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Li
Peng
P
Huang
Jian-ping
JP
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D018118:Chloride Channels / Q000235:genetics; D057973:Dent Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D053565:Hypercalciuria / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009154:Mutation; D010375:Pedigree; D011507:Proteinuria / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics
C097503:CLC-5 chloride channel; D018118:Chloride Channels