中国当代儿科杂志Issue(12)：1261-1266,6.DOI:10.7499/j.issn.1008-8830.2015.12.001
Dent病4例临床及基因分析
Clinical and genetic analysis of Dent disease in 4 Chinese children
简珊 1魏珉 1何艳燕 1王薇 1康郁林 2孙之星1
作者信息
- 1. 中国医学科学院北京协和医院儿科，北京 100730
- 2. 上海交通大学医学院附属儿童医院肾脏风湿科，上海 200040
- 折叠
摘要
Abstract
ObjectiveTo study the clinical features and gene mutations of 4 Chinese children with Dent disease. MethodsThe clinical and laboratory data of 4 children with Dent disease were analyzed retrospectively. Genetic testing of the 4 cases was carried out.ResultsAll of 4 cases were boys. The ifrst impression of Cases 1-3 was Fanconi syndrome. Proteinuria was presented as the ifrst impression in Case 4. All 4 boys presented with low-molecular weight proteinuria (LMWP) and hypercalciuria, including 3 cases with hematuria, 1 case with kidney stones, 2 cases with nephrocalcinosis, 3 cases with hypophosphatemia, and 3 cases with rickets. Mutations of the CLCN5 gene were revealed in three patients (Cases 1, 2 and 4), including exon 6-7del, c.785_787de l(p.263del Leu) and c.1039 C>T (p.Arg347Term). The ifrst two gene mutations had never reported before.ConclusionsUrine protein electrophoresis should be carried out for patients with proteinuria. Dent disease should be taken into consideration when patients with Fanconi syndrome have hypercalciuria, nephrocalcinosis or kindey stones. Genetic analyses are needed for a deifnite diagnosis.关键词
Dent病/CLCN5基因/OCRL1基因/Fanconi综合征/儿童Key words
Dent disease/CLCN5 gene/OCRL1 gene/Fanconi syndrome/Child引用本文复制引用
简珊,魏珉,何艳燕,王薇,康郁林,孙之星..Dent病4例临床及基因分析[J].中国当代儿科杂志,2015,(12):1261-1266,6.
