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Dent病(Dent disease)是一种X连锁隐性遗传性疾病,于1964年由Dent等首次报道,临床特征主要是低分子蛋白尿(LWMP)、高钙尿、肾钙质沉着以及进行性肾衰竭,而其中30%~80%患者在30~50岁时发展至肾病终末阶段[1]。近年来,随着基因诊断技术的成熟,越来越多Dent病已被报道。现将Dent病的研究进展综述如下。1 Dent病基因型与临床分型基因突变是Dent病的发病原因,其中约60%是由电压门控性氯离子通道蛋白5(CLCN5)基因突变导致,有15%是由眼-脑-肾综合征相关基因1(OCRL1)基因突变所致。CLCN5位于染色体Xp11.23-p11.22,由12个外显子组成,编码由746个氨基酸组成的Cl-通道蛋白-5(CLC-5),CLCN5
Dent disease is a X-linked occult genetic disease, first reported by Dent et al in 1964. The clinical features are mainly low molecular proteinuria (LWMP), hypercalciuria, nephrocalcinosis and progressive kidney Failure, and 30% to 80% of patients in the 30 to 50 years of age developed to the end stage of renal disease [1]. In recent years, with the maturity of genetic diagnosis technology, more and more Dent disease has been reported. The progress of Dent disease are summarized below. 1 Dent disease genotype and clinical classification Mutation is the cause of Dent disease, of which about 60% is caused by voltage-gated chloride ion channel protein 5 (CLCN5) gene mutation, 15% is caused by the eye - brain - kidney Syndrome-related gene 1 (OCRL1) gene mutation. CLCN5 is located on chromosome Xp11.23-p11.22 and consists of 12 exons and encodes a 746 amino acid Cl-channel protein-5 (CLC-5), CLCN5