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.
作者
余颖芳
陈安
郑季彦
陈理华
杜立中
Yu Yingfang;Chen An;Zheng Jiyan;Chen Lihua;Du Lizhong(Department of Neonatology,Children′s Hospital,Zhejiang University School of Medicine,Hangzhou 310052,China)
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2020年第4期294-298,共5页
Chinese Journal of Endocrinology and Metabolism
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
Familial glucocorticoid deficiency
ACTH unresponsiveness
Melanocortin 2 receptor accessory protein
Treatment
