Progress on CLCN5 gene in Dent disease type 1
10.3760/cma.j.issn.1673-4408.2025.10.002
- VernacularTitle:CLCN5基因在Dent病1型中的研究进展
- Author:
Lidan HU
1
;
Haidong FU
;
Jingjing WANG
;
Langping GAO
;
Guozhen WANG
;
Yan WANG
;
Xiaobei XIE
;
Jianhua MAO
Author Information
1. 浙江大学医学院附属儿童医院肾内科，杭州 310052
- Keywords:
Dent disease;
CLCN5;
CIC-5;
Proximal renal tubules;
Endocytosis
- From:
International Journal of Pediatrics
2025;52(10):653-659
- CountryChina
- Language:Chinese
-
Abstract:
Dent disease is a rare X-linked recessive renal tubular disease characterized by low molecular weight proteinuria，hypercalcemia and nephrocalcinosis. It is also a major cause of tubular proteinuria in children. According to different causative genes，Dent disease can be divided into three types：type 1 is caused by mutations in the CLCN5 gene，accounting for about 60%-70%；type 2 is caused by mutations in the OCRL gene，accounting for about 15%-20%；type 3 has a similar clinical phenotype but no known pathogenic gene mutations. CLCN5 encodes the voltage-dependent 2Cl -/1H +exchange channel CIC-5，which is involved in proximal renal tubule endocytosis. Its mutations can cause a variety of proximal tubular dysfunction symptoms，mainly including low molecular weight proteinuria. The use of gene detection technology has resulted in an increase in reports on Dent disease year after year. At present，the specific mechanism underlying Dent disease remains unknown. This article reviews the research progress of CLCN5，hoping to provide new insight for the mechanism research of CLCN5 and the specific treatment of Dent disease type 1.
