Schurman S J, Norden A G, Scheinman S J
Department of Pediatrics, University of South Florida College of Medicine, St. Petersburg, Florida, USA.
J Pediatr. 1998 May;132(5):859-62. doi: 10.1016/s0022-3476(98)70318-x.
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.
我们报告了一个新的X连锁隐性肾结石家系。X连锁隐性肾结石是一种最近描述的疾病，其特征为复发性肾结石、肾钙质沉着症和进行性肾衰竭，与肾氯通道基因（氯通道5）的突变有关。通过肾脏超声检查以及测量低分子量蛋白质和钙的尿排泄量来筛查有风险的个体，将排除无X连锁隐性肾结石家系的男孩，并识别可能患有该疾病的男孩。
