摘要
Dent病是一种少见的X连锁的隐性遗传病,表型定义为低分子量蛋白尿(low molecular weight proteinuria,LMWP)、高钙尿症和至少1种如下体征:肾钙质沉着症、肾结石、血尿、低磷血症或肾功能不全.该文报告了 1例经基因检测确诊的CLCN5基因缺失突变导致的Dent病1型病例.患者为青年男性,临床表现为LMWP、肾结石、血尿、肾功能不全、低钾血症、间歇性低磷血症;病理形态学以局灶肾小球球性硬化为突出表现;其CLCN5缺失突变为国内外首次报道.该病例有助于提高肾内科医师对Dent病的认识.
Abstract
J Dent disease is a rare X-linked recessive genetic disorder characterized by low molecular weight proteinuria(LMWP),hypercalcemia,and at least one other sign including nephrocalcinosis,nephrolithiasis,hematuria,hypophosphatemia,or renal insufficiency.Herein,a case of Dent diseases type 1 caused by CLCN5 gene deletion mutation confirmed by genetic testing is reported.This patient is a young male with clinical manifestations of LMWP,nephrolithiasis,hematuria,renal insufficiency,hypokalemia,and intermittent hypophosphatemia.The main manifestation of renal pathology is focal global glomerulosclerosis.By far,this deletion mutation of CLCN5 has not been reported previously.This case will raise the awareness of Dent disease among nephrologists.
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