家族性糖皮质激素缺乏症MRAP突变新生儿一例病例报告  

Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation:one case report

作　　者：余颖芳[1] 陈安[1] 郑季彦[1] 陈理华[1] 杜立中[1] Yu Yingfang;Chen An;Zheng Jiyan;Chen Lihua;Du Lizhong(Department of Neonatology,Children′s Hospital,Zhejiang University School of Medicine,Hangzhou 310052,China)

机构地区：[1]浙江大学医学院附属儿童医院新生儿科,杭州310052

出　　处：《中华内分泌代谢杂志》2020年第4期294-298,共5页Chinese Journal of Endocrinology and Metabolism

摘　　要：对1例罕见的新生儿期确诊的家族性糖皮质激素缺乏患儿的临床表现、实验室检测及影像学检查进行总结。患儿生后即出现呼吸急促,伴发绀,无抽搐,无低血糖,全身皮肤色素沉着发黑,实验室检测主要为血皮质醇低和ACTH水平高。黑皮素受体2辅助蛋白(MRAP)基因测序结果显示,患儿为c.106+1(IVS3)delG纯合突变,临床表现正常的父亲、母亲均为MRAP基因c.106+1(IVS3)delG杂合突变。The clinical manifestation,laboratory findings,and imaging examination of a baby with familial glucocorticoid deficiency were summarized.The patient presented achypnea,cyanosis,and pigmentation of the whole body skin,no convulsion and hypoglycemia found.Laboratory findings revealed low blood cortisol and high blood ACTH levels.A 1-bp homozygous deletion(c.106+1delG)in intron 3 of melanocortin 2 receptor accessory protein(MRAP)gene in the patient was found.His parents were found to be heterozygous carrier for the same mutation,without any clinical manifestation.

关 键 词：家族性糖皮质激素缺乏 ACTH无反应 黑皮素受体2辅助蛋白 治疗 

分 类 号：R58[医药卫生—内分泌]