新生儿孤立性促肾上腺皮质激素缺乏症（IAD）：一种可能危及生命但可治疗的新生儿胆汁淤积病因。
Neonatal isolated ACTH deficiency (IAD): a potentially life-threatening but treatable cause of neonatal cholestasis.
作者信息
Alsaleem Mahdi, Saadeh Lina, Misra Amrit, Madani Shailender
机构信息
Detroit Medical Center, Detroit, Michigan, USA Wayne State University, Detroit, Michigan, USA.
Wayne State University, Detroit, Michigan, USA.
出版信息
BMJ Case Rep. 2016 Aug 17;2016:bcr2016215032. doi: 10.1136/bcr-2016-215032.
Abstract
Isolated ACTH deficiency (IAD) is a rare cause of neonatal cholestasis and hypoglycaemia. This diagnosis has a 20% mortality potential if unrecognised. We describe a case of an infant presenting with cholestatic jaundice and hypoglycaemia. The patient had laboratory findings suggestive of IAD, which was later confirmed with molecular genetic testing. One of the mutations this patient had is a new finding. The patient was started on glucocorticoid replacement therapy after which his bilirubin and glucose levels normalised.
摘要
孤立性促肾上腺皮质激素缺乏症（IAD）是新生儿胆汁淤积和低血糖的罕见病因。若未被识别，该诊断有20%的潜在死亡率。我们描述了一例表现为胆汁淤积性黄疸和低血糖的婴儿病例。该患者的实验室检查结果提示IAD，后来经分子基因检测得以证实。该患者所具有的其中一种突变是一项新发现。患者开始接受糖皮质激素替代治疗，之后其胆红素和血糖水平恢复正常。
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