CAJ | 학술논문

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.
목적 분석화총결6례인동Dent병적림상급기인특정.방법 총결6례Dent환인적림상자료,채용취합매련반응급직접측서적방법검측CLCN5기인.결과 6례환인균유불동정도적소분자량단백뇨화고개뇨증.기중3/6유혈뇨,4/6유신개화,3/6유저린혈증,1/6유구루병.재저6개가계중발현료6개CLCN5기인돌변,포괄3개무의돌변、1개전절위점돌변、2개착의돌변,분별위L594fsX595、R637X、R467X、IVS4-2A>G、S244L화V505G.기중,IVS4-2A>G화V505G시신돌변.결론 소분자단백뇨화고개뇨증시6례Dent병환인적주요림상특정;Dent병가유Bartter종합정양표현,수요기인진단진일보학진.
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.