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Dent病研究进展
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Abstract:
Dent病(Dent disease)是一种罕见的X连锁隐性遗传肾小管疾病。已被证实CLCN5及OCRL1为其致病基因，另有部分病例致病基因不明。随着Dent病分子遗传学研究的不断深入，关于Dent病的研究有了新的进展，现就Dent病的致病基因及其致病机制、临床表型及治疗进展等方面进行综述。
Dent disease is a rare X-linked recessive kidney tubule disease. It has been confirmed that CLCN5 and OCRL1 are the pathogenic genes, but the pathogenic genes are unknown in some cases. With the deepening of the molecular genetics of Dent disease, new progress has been made in the re-search of Dent disease. This article will explore the progress of Dent disease from the pathogenic genes and their pathogenic mechanisms, clinical phenotype and treatment.
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