Dent病研究进展
Advances in the Study of Dent Disease
DOI: 10.12677/ACM.2023.1351145, PDF,   
作者: 杨玉娇, 王 墨*：重庆医科大学附属儿童医院肾内科，儿童发育疾病研究教育部重点实验室，国家儿童健康与疾病临床医学研究中心，儿童发育重大疾病国家国际科技合作基地重庆，儿科学重庆市重点实验室，重庆
关键词: Dent病；致病机制；治疗；Dent Disease； Pathogenic Mechanism； Treatment
摘要: 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。
Abstract: 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.
文章引用：杨玉娇, 王墨. Dent病研究进展[J]. 临床医学进展, 2023, 13(5): 8181-8188. https://doi.org/10.12677/ACM.2023.1351145

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