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遗传性ACTH无反应性肾上腺皮质功能不全以孤立性糖皮质激素缺乏,醛固酮分泌正常为主要表现,可伴有或不伴有贲门松驰障碍和泪生成不足,为慢性肾上腺皮质功能不全的一种少见类型,国内罕见报道。本院于1972~1985年共收治慢性肾上腺皮质功能不全4例。其中2例为阿迪森氏病,2例为本病,现报告如下: 例1 男、9个月11天,因呕吐、抽搐12h,于1985年11月入院。浅昏迷、反复惊厥,全身皮肤色素沉着过多,唇、手背及足背尤为明显,双瞳孔对光反射迟纯,心、肺、肝、脾无异常。无脱水及循环衰竭表现,脑脊液常规正常。血钠132mmol/L、钾4.1
Hereditary ACTH nonresponsive adrenal insufficiency with isolated glucocorticoid deficiency, normal secretion of aldosterone as the main performance, with or without cardia relaxation disorders and lack of lacrimal formation, a chronic adrenal insufficiency Rare type, rare domestic reports. The hospital in 1972 to 1985 were treated in 4 cases of chronic adrenal insufficiency. Two of them were Addison’s disease and two were based on this disease. The report is as follows: Example 1 Male, 9 days and 11 days, admitted to hospital in November 1985 for vomiting and convulsions for 12 hours. Light coma, repeated convulsions, hyperpigmentation of the whole body skin, lips, dorsal and dorsum of the foot is particularly evident, double pupil light reflex pure, heart, lung, liver and spleen without exception. No dehydration and circulatory failure performance, normal cerebrospinal fluid. Serum 132mmol / L, potassium 4.1