Zhang Hongwen, Wang Fang, Xiao Huijie, Yao Yong
Department of Pediatric, Peking University First Hospital, Beijing, China.
Intractable Rare Dis Res. 2017 May;6(2):114-118. doi: 10.5582/irdr.2017.01019.
Dent disease is an X-linked recessive proximal tubular disorder that affects mostly male patients in childhood or early adult life, caused by mutations in (Dent disease 1) or (Dent disease 2) genes, respectively. It presents mainly with hypercalciuria, low-molecular-weight proteinuria, nephrocalcinosis and progressive renal failure. We report here the same mutation but different phenotypes in two Chinese brothers, and speculate on the possible reasons for the variability of the genotype-phenotype correlations.
丹特病是一种X连锁隐性近端肾小管疾病，主要影响儿童期或成年早期的男性患者，分别由CLCN5（丹特病1型）或OCRL（丹特病2型）基因突变引起。其主要表现为高钙尿症、低分子量蛋白尿、肾钙质沉着症和进行性肾衰竭。我们在此报告了两名中国兄弟存在相同的CLCN5基因突变但表现出不同的表型，并推测了基因型-表型相关性变异的可能原因。
