综合报道

合并肾囊性病变儿童1型Dent病1例报告

  • ZHANG Hongwen ,
  • SU Baige ,
  • XU Ke ,
  • et al
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  • 北京大学第一医院儿科(北京 100034)

网络出版日期: 2019-02-26

Dent disease combined with renal cystic disease: report of one case and review of the literature

  • 张宏文,苏白鸽,徐可,等
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  • Department of Paediatrics, Peking University First Hospital, Beijing 100034, China

Online published: 2019-02-26

摘要

 目的 探讨儿童Dent病1型合并肾囊性病变的可能发病原因。方法 回顾1例16岁男性肾囊性病变患儿 的临床资料,并复习相关文献。结果 患儿发现蛋白尿、双肾多发囊肿4年,肾功能异常3年,临床主要表现为肾病水平 的小分子蛋白尿、高钙尿症、肾功能异常并进行性加重、双肾多发囊肿、低钾血症。肾脏病理为局灶节段性肾小球硬化 伴肾小管间质损伤。CLCN5基因突变分析示c.1975delC(p.R659Gfs*7),NPHP相关基因未见突变。诊断为Dent病1 型合并肾囊性病变、慢性肾脏病。结论 Dent病1型合并肾囊性病变较为罕见,其确切机制尚不清楚。

本文引用格式

ZHANG Hongwen , SU Baige , XU Ke , et al . 合并肾囊性病变儿童1型Dent病1例报告[J]. 临床儿科杂志, 2019 , 37(2) : 141 . DOI: 10.3969/j.issn.1000-3606.2019.02.016

Abstract

Objective To explore the possible mechanism in childhood Dent disease combined with renal cystic disease. Methods Clinical data were collected and analyzed from 1 childhood Dent disease cases combined with renal cystic disease. Results The case presented with nephrotic level low-molecular weight proteinuria, hypercalciuria, progressive renal failure, multiple cysts in both kidney and hypopotassemia. Renal biopsy showed focal segmental glomerulosclerosis combined with tubulointerstitial damage. Gene mutation analysis showed a hemizygous mutation (c.1975delC, p.R659Gfs*7) in CLCN5 gene, and no positive result on nephronophthisis related genes was found. Conclusions Dent disease combined with renal cystic disease is a rare phenomenon, with reasons unknown.
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