泌尿系统疾病专栏

儿童 Dent 病Ⅰ型 4 例报告

  • 匡仟卉柠 ,
  •  高春林 ,
  •  夏正坤
展开
  • 南京军区总医院(江苏南京 210002)

收稿日期: 2018-06-15

  网络出版日期: 2018-06-15

基金资助

江苏省儿科医学创新团队项目(No. CXTDA2017022)

Dent disease I in 4 children: a case report

  • KUANG Qianhuining ,
  • GAO Chunlin ,
  • XIA Zhengkun
Expand
  • Nanjing Military Region General Hospital, Nanjing 210000, Jiangsu, China

Received date: 2018-06-15

  Online published: 2018-06-15

摘要

目的 探讨Dent病Ⅰ型的诊断和治疗。方法 回顾分析4例Dent病Ⅰ型患儿的临床资料及相关基因 CLCN5、OCRL1外显子及附近调控区域的直接测序结果。结果 4例患儿均为男性,发病年龄1.5~4岁,确诊年龄3~10岁; 临床皆有蛋白尿表现,其中2例伴佝偻病症状。基因检测均发现CLCN5突变,分别为L263F、R104X、S244L及外显子9-13 缺失。S244L为Dent病Ⅰ型患者最为常见的突变,其余均为新发现突变位点。结论 Dent病Ⅰ型主要表现为低分子量蛋 白尿,高钙尿症。基因检测有助于早期明确诊断。

本文引用格式

匡仟卉柠 ,  高春林 ,  夏正坤 . 儿童 Dent 病Ⅰ型 4 例报告[J]. 临床儿科杂志, 2018 , 36(6) : 411 . DOI: 10.3969/j.issn.1000-3606.2018.06.003

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.
文章导航

/