一名患有丹特病的中国男孩中发现一种新的CLCN5突变。
A novel CLCN5 mutation in a Chinese boy with Dent's disease.
作者信息
Ji Li-Na, Chen Chao-Ying, Wang Jing-Jing, Cao Li
机构信息
Nephrology Department, Children's Hospital Affiliated to Capital Institute of Pediatrics, No 2 Yabao Road, Chaoyang District, Beijing, 100020, China,
出版信息
World J Pediatr. 2014 Aug;10(3):275-7. doi: 10.1007/s12519-014-0504-y. Epub 2014 Aug 15.
BACKGROUND
Dent's disease is a rare X-linked recessive hereditary disease caused by mutations in either the CLCN5 or OCRL1 genes. This disease is characterized by manifestations of proximal renal tubule dysfunction associated with low molecular weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure.
METHODS
We report a Chinese boy with Dent's disease, clinically diagnosed by LMWP and hypercalciuria. Genetic analysis was made of the CLCN5 and OCRL1 genes. Related studies were also reviewed.
RESULTS
A splice site mutation IVS6, +2T>C of the CLCN5 gene was revealed in this case, and it was not reported previously.
CONCLUSIONS
Clinical and genetic analysis is valuable for the diagnosis of Dent's disease. A novel mutation in the CLCN5 gene was identified in our patient.
背景
丹特病是一种罕见的X连锁隐性遗传病，由CLCN5或OCRL1基因的突变引起。该疾病的特征是近端肾小管功能障碍，伴有低分子量蛋白尿（LMWP）、高钙尿症、肾钙质沉着症、肾结石和进行性肾衰竭。
方法
我们报告一名患有丹特病的中国男孩，通过LMWP和高钙尿症进行临床诊断。对CLCN5和OCRL1基因进行了基因分析。还对相关研究进行了综述。
结果
该病例中发现了CLCN5基因的一个剪接位点突变IVS6，+2T>C，此前未见报道。
结论
临床和基因分析对丹特病的诊断具有重要价值。我们的患者中鉴定出了CLCN5基因的一个新突变。
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