以小分子蛋白尿为主要表现的Dent病六例临床及基因分析

Clinical and genetic analysis of Dent＇ s disease in 6 Chinese children with low molecular weight proteinuria

目的 分析和总结6例儿童Dent病的临床及基因特征.方法 总结6例Dent患儿的临床资料,采用聚合酶链反应及直接测序的方法检测CLCN5基因.结果 6例患儿均有不同程度的小分子量蛋白尿和高钙尿症.其中3/6有血尿,4/6有肾钙化,3/6有低磷血症,1/6有佝偻病.在这6个家系中发现了6个CLCN5基因突变,包括3个无义突变、1个剪切位点突变、2个错义突变,分别为L594fsX595、R637X、R467X、IVS4-2A〉G、S244L和V505G.其中,IVS4-2A〉G和V505G是新突变.结论 小分子蛋白尿和高钙尿症是6例Dent病患儿的主要临床特征;Dent病可有Bartter综合征样表现,需要基因诊断进一步确诊.

Objective To analyze the clinical features and gene mutations of 6 Chinese children with Dent＇s disease. Method The clinical and laboratory data of 6 children with Dent＇ s disease were summarized. CLCN5 gene was analyzed using PCR amplification and DNA sequencing. Result 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 VS05G. The mutation LS94fsX595,IVS4-2A 〉 G and V505G was never reported before. Conclusion 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.