X-linked recessive nephrolithiasis: presentation and diagnosis in children.
X-linked recessive nephrolithiasis: presentation and diagnosis in children.
复制标题
X连锁隐性肾结石：儿童的表现和诊断。
DOI：
10.1016/s0022-3476(98)70318-x
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发表时间：
1998
期刊：
影响因子：
--
通讯作者：
Scheinman,SJ
中科院分区：
文献类型：
--
作者：
Schurman,SJ;Norden,AG;Scheinman,SJ
我们报告一个新的X连锁隐性肾结石家族。X连锁隐性肾结石是一种最近描述的疾病，其特征在于复发性肾结石、肾钙质沉着症和进行性肾衰竭，与肾氯离子通道基因（氯离子通道5号）突变相关。用肾脏超声检查和测量尿中低分子量蛋白和钙排泄量筛查高危个体，排除无X连锁隐性肾结石亲属的男孩，并确定可能患有该病的男孩。（J Pediatr 1998：132：859-62）
We report a new X-linked recessive nephrolithiasis kindred. X-linked recessive nephrolithiasis is a recently described disease characterized by recurrent nephrolithiasis, nephrocalcinosis, and progressive renal failure, associated with mutations in a renal chloride channel gene, chloride channel number 5. Screening individuals at risk with renal ultrasonography and measurement of urinary excretion of low molecular weight proteins and calcium will exclude boys without X-linked recessive nephrolithiasis kindred and identify boys likely to have the disease. (J Pediatr 1998:132:859-62)