Söderbergh A, Rorsman F, Halonen M, Ekwall O, Björses P, Kämpe O, Husebye E S
Department of Clinical Sciences, University Hospital, Uppsala, Sweden.
J Clin Endocrinol Metab. 2000 Jan;85(1):460-3. doi: 10.1210/jcem.85.1.6266.
Autoantibodies against aromatic L-amino acid decarboxylase (AADC) are present in about 50 percent of sera from patients with autoimmune polyendocrine syndrome type I (APS I) but absent in sera from patients with different organ-specific autoimmune diseases, such as insulin-dependent diabetes mellitus, Hashimoto's thyroiditis, and Graves' disease. AADC is expressed in the pancreatic beta-cells, the liver, and the nervous system; and the presence of AADC antibodies has been shown to correlate to hepatitis and vitiligo in APS I patients. Among 101 investigated patients with autoimmune Addison's disease, 15 had high titers of AADC antibodies. According to the clinical characteristics of these patients, only 3 had APS I. The remaining 12 had either isolated Addison's disease or associated diabetes mellitus, hypothyroidism, vitiligo, alopecia, gonadal failure, and pernicious anemia. Autoantibodies against 21-hydroxylase were present in 9 of 12, whereas autoantibodies against side-chain cleavage enzyme and 17alpha-hydroxylase were present in 3 of 12. Two patients had only autoantibodies against AADC. DNA was available from 3 of these 12 patients. One of the patients, a woman with Addison's disease, autoimmune thyroiditis, and premature menopause was heterozygous for a point mutation (G1021A, Val301Met) in the first plant homeodomain zinc finger domain of the autoimmune regulator (AIRE) gene. The presence of AADC autoantibodies identifies patients with APS I and a subgroup of Addison patients who may have a milder atypical form of APS I or represent a distinct entity. Measurement of autoantibodies against AADC should be included in the evaluation of Addison's disease.
抗芳香族L-氨基酸脱羧酶（AADC）自身抗体存在于约50%的自身免疫性多内分泌腺病综合征I型（APS I）患者血清中，但在患有不同器官特异性自身免疫性疾病的患者血清中不存在，如胰岛素依赖型糖尿病、桥本甲状腺炎和格雷夫斯病。AADC在胰腺β细胞、肝脏和神经系统中表达；并且已表明APS I患者中AADC抗体的存在与肝炎和白癜风相关。在101例接受调查的自身免疫性Addison病患者中，15例具有高滴度的AADC抗体。根据这些患者的临床特征，只有3例患有APS I。其余12例患有孤立性Addison病或合并糖尿病、甲状腺功能减退、白癜风、脱发、性腺功能衰竭和恶性贫血。12例中的9例存在抗21-羟化酶自身抗体，12例中的3例存在抗侧链裂解酶和17α-羟化酶自身抗体。2例患者仅存在抗AADC自身抗体。这12例患者中有3例可获得DNA。其中1例患者为患有Addison病、自身免疫性甲状腺炎和过早绝经的女性，其自身免疫调节因子（AIRE）基因的第一个植物同源异型域锌指结构域存在点突变（G1021A，Val301Met），为杂合子。AADC自身抗体的存在可识别出APS I患者以及Addison病患者的一个亚组，这些患者可能患有较轻的非典型APS I形式或代表一个独特的实体。在Addison病的评估中应包括抗AADC自身抗体的检测。
