Rijlaarsdam R S, van Diepen M M L, Wit J M
Leids Universitair Medisch Centrum, afd. Kindergeneeskunde, Leiden.
Ned Tijdschr Geneeskd. 2005 May 21;149(21):1137-41.
Three boys, aged 5, 11 and 14 years, were admitted due to vomiting, fatigue and dehydration, and a 10-year-old boy was admitted due to circulatory and respiratory insufficiency. Two had Addison's disease, one had a late presentation of congenital adrenal hypoplasia due to a DAX-1 mutation and in one adrenal insufficiency was the first manifestation ofadrenoleukodystrophia. The boys recovered after treatment. It is important to recognise the symptoms of adrenal insufficiency, because treatment can be life-saving. After the initial diagnosis the underlying pathology should be sought.
三名男孩，年龄分别为5岁、11岁和14岁，因呕吐、乏力和脱水入院，一名10岁男孩因循环和呼吸功能不全入院。其中两名患有艾迪生病，一名因DAX-1突变导致先天性肾上腺发育不全出现较晚，另一名肾上腺功能不全是肾上腺脑白质营养不良的首发表现。这些男孩经治疗后康复。认识到肾上腺功能不全的症状很重要，因为治疗可能挽救生命。初步诊断后应寻找潜在病因。
