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NROB1 基因错义突变致新生儿先天性肾上腺发育不良1 例报告

  • 刘晓景 ,
  • 卫海燕 ,
  • 李春枝 ,
  • 陈永兴 ,
  • 杨海花
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  • 郑州市儿童医院内分泌遗传代谢科(河南郑州 450018)

收稿日期: 2016-07-15

  网络出版日期: 2016-07-15

The NROB1 gene missense mutation causes congenital adrenal dysplasia: a case report

  • LIU Xiaojing ,
  • WEI Haiyan ,
  • LI Chunzhi ,
  • CHEN Yongxing ,
  • YANG Haihua
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  • Department of Endocrine Genetic Metabolism, Zhengzhou Children’s Hospital, Zhengzhou 450018, Henan, China

Received date: 2016-07-15

  Online published: 2016-07-15

摘要

目的 探讨X连锁先天性肾上腺发育不良(AHC)的临床特点及诊断。方法 回顾性分析1 例AHC患儿的临床资料及基因检测结果,并复习相关文献。结果 2个月男性患儿,生后即出现体质量不增伴呕吐,伴有肾上腺功能不全失盐危象。基因检测发现NROB1基因错义突变,确诊为X-连锁先天性肾上腺发育不良。结论 X连锁先天性肾上腺发育不良是一种罕见病,诊断主要是通过临床表现、实验室检测及NROB1基因检测。

本文引用格式

刘晓景 , 卫海燕 , 李春枝 , 陈永兴 , 杨海花 . NROB1 基因错义突变致新生儿先天性肾上腺发育不良1 例报告[J]. 临床儿科杂志, 2016 , 34(7) : 522 . DOI: 10.3969 j.issn.1000-3606.2016.07.011

Abstract

Objective To explore the clinical feature and diagnosis of the X linked adrenal hypoplasia congenital (X-AHC). Methods The clinical data and gene detection results of one case of AHC were retrospectively analyzed. The related literatures were reviewed. Results Two-month-old male infant was suffered with slow weight gain, vomiting, and salt craving of adrenal insufficiency after birth. Gene detection found a new missense mutation on NROB1 gene. The diagnosis of X-AHC was confirmed. Conclusions X-AHC is a kind of rare disease and is diagnosed by clinical manifestation, laboratory testing, and NROB1 gene detection.
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