Dent disease Ⅰ in 4 children:a case report
10.3969/j.issn.1000-3606.2018.06.003
- VernacularTitle:儿童Dent病Ⅰ型4例报告
- Author:
Qianhuining KUANG
1
;
Chunlin GAO
;
Zhengkun XIA
Author Information
1. 南京军区总医院 江苏南京 210002
- Keywords:
Dent I disease;
CLCN5 mutation;
child
- From:
Journal of Clinical Pediatrics
2018;36(6):411-415
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the diagnosis and treatment of Dent disease I. Method The clinical data of 4 children with Dent diseaseⅠand the direct sequencing results of Dent disease-related genes CLCN5, OCRL1 exons and nearby regulatory regions were retrospectively analyzed. Results All the four children were male, the age at onset was 1.5～4 years and the age at diagnosis was 3～10 years. All of them had the clinical manifestations of proteinuria, among which 2 cases were accompanied by rickets symptoms. Gene detection showed that all of them had CLCN5 mutations, L263F, R104X, S244L and exon 9-13 deletion respectively. S244L is the most common mutation in patients with Dent disease I, and the rest are newly discovered mutation sites. Conclusion Dent disease I is mainly manifested as low molecular weight proteinuria and hypercalciuria. Gene detection contributes to the early and clear diagnosis.
