Zhu Bi-zhen, Li Peng, Huang Jian-ping
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Zhonghua Er Ke Za Zhi. 2010 May;48(5):329-33.
To analyze the clinical features and gene mutations of 6 Chinese children with Dent's disease.
The clinical and laboratory data of 6 children with Dent's disease were summarized. CLCN5 gene was analyzed using PCR amplification and DNA sequencing.
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.
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.
分析6例中国儿童丹特病的临床特征及基因突变情况。
总结6例丹特病患儿的临床及实验室资料。采用聚合酶链反应（PCR）扩增及DNA测序分析CLCN5基因。
6例患者均表现为低分子量蛋白尿和高钙尿症，其中3/6有血尿，4/6有肾钙质沉着症，3/6有低磷血症，1/6有佝偻病。发现CLCN5基因的6种突变，包括L594fsX595、R637X、R467X、IVS4-2A>G、S244L和V505G。突变L594fsX595、IVS4-2A>G和V505G此前未见报道。
低分子量蛋白尿和高钙尿症是6例中国男性丹特病患儿的主要临床特征。丹特病可能与巴特综合征样综合征有关，这使得基因诊断更为重要。
