Valdemarsson S, Hedner P, Löw B
Acta Med Scand. 1981;210(6):517-9. doi: 10.1111/j.0954-6820.1981.tb09863.x.
The diagnosis of autoimmune Addison's disease was established in two siblings by demonstration of serum antibodies against adrenal cortex antigen, elevated P-ACTH combined with a low P-cortisol, and the absence of P-cortisol response to exogenous ACTH. HLA typing in the two siblings and their parents revealed the same HLA phenotype in the two patients. This is compatible with an autosomal recessive mode of inheritance and indicates that a supposed trait for autoimmune Addison's disease may segregate with the HLA complex in the familial form of autoimmune Addison's disease.
通过检测针对肾上腺皮质抗原的血清抗体、升高的血浆促肾上腺皮质激素(P-ACTH)合并低血浆皮质醇(P-cortisol)以及对外源性促肾上腺皮质激素无P-皮质醇反应,确诊了两名同胞患有自身免疫性艾迪生病。对这两名同胞及其父母进行的人类白细胞抗原(HLA)分型显示,两名患者具有相同的HLA表型。这与常染色体隐性遗传模式相符,表明在家族性自身免疫性艾迪生病中,假定的自身免疫性艾迪生病性状可能与HLA复合体连锁。