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  

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

作　　者：刘晓景[1] 杨海花[1] 李春枝[1] 陈永兴[1] 卫海燕[1] 

机构地区：[1]郑州市儿童医院内分泌遗传代谢科,河南郑州450018

出　　处：《临床儿科杂志》2016年第7期522-525,共4页Journal of Clinical Pediatrics

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。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 insufifciency after birth. Gene detection found a new missense mutation on NROB 1 gene. The diagnosis of X-AHC was conifrmed. Conclusions X-AHC is a kind of rare disease and is diagnosed by clinical manifestation, laboratory testing, and NROB 1 gene detection.

关 键 词：X-连锁先天性肾上腺发育不良 基因检测 新生儿 

分 类 号：R722.1[医药卫生—儿科]