Perheentupa Jaakko
Hospital for Children and Adolescents, University of Helsinki, PO Box 281, Fin-00029 HYKS, Helsinki, Finland.
Endocrinol Metab Clin North Am. 2002 Jun;31(2):295-320, vi. doi: 10.1016/s0889-8529(01)00013-5.
The clinical picture and course of APS-I or APD-I/APECED is widely variable: the list of possible disease components includes some 30 disorders. The initial manifestation may not include any of the known characteristic components, namely, mucocutaneous candidiasis, hypoparathyroidism, or adrenocortical insufficiency. Although mutation detection is available, it does not help to exclude this disease. Diagnostic strategy needs to be based on knowledge of the clinical picture, including the features of ectodermal dystrophy.
自身免疫性多内分泌腺病综合征1型（APS - I）或自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良综合征（APD - I/APECED）的临床表现和病程差异很大：可能的疾病组成部分约有30种。初始表现可能不包括任何已知的特征性组成部分，即皮肤黏膜念珠菌病、甲状旁腺功能减退或肾上腺皮质功能不全。尽管可以进行突变检测，但这无助于排除该疾病。诊断策略需要基于对临床表现的了解，包括外胚层营养不良的特征。
