Addison's disease: a survey on 633 patients in Padova
Addison's disease: a survey on 633 patients in Padova
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DOI：
10.1530/eje-13-0528
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发表时间：
2013-12-01
影响因子：
5.8
通讯作者：
Mantero, Franco
中科院分区：
文献类型：
--
作者：
Betterle, Corrado;Scarpa, Riccardo;Mantero, Franco
目的：艾迪生病（AD）是一种罕见的内分泌疾病。设计：我们的目的是评估自1967年以来随访的633名意大利AD患者的临床、免疫学、肾上腺影像学和遗传特征。方法：分析肾上腺皮质自身抗体、其他自身免疫性和非自身免疫性疾病的存在、非肾上腺自身抗体、肾上腺影像学以及HLA-DRB1和AIRE的遗传谱。结果：共有492例（77.7%）患者被发现为自身免疫性AD (A-AD)， 57例（9%）为结核性AD， 29例（4.6%）为遗传相关AD， 10例（1.6%）为肾上腺癌，6例（0.94%）为手术后AD， 4例（0.6%）为血管疾病相关AD， 3例（0.5%）为感染后AD， 32例（5.1%）为特发性AD。在绝大多数（88-100%）新近发病的A-AD患者中检测到肾上腺皮质抗体，但在非自身免疫性AD患者中未检测到。肾上腺成像显示所有A-AD患者的腺体正常/萎缩：88%的A-AD患者有其他临床或亚临床自身免疫性疾病或非肾上腺自身抗体阳性。在合并其他自身免疫性疾病的情况下，65.6%的A-AD患者存在2型自身免疫性多内分泌综合征（APS2）， 14.4%存在APS1, 8.5%存在APS4。与对照组相比，APS2患者HLAⅱ类等位基因DRB1*03、DRB1*04升高，DRB1*01、DRB1*07、DRB1*013降低。在APS1患者中，96%的人发现AIRE基因突变。结论：A-AD是意大利最常见的肾上腺功能不全，大约90%的患者在发病时肾上腺自身抗体阳性。评估A-AD患者是否存在其他自身免疫性疾病，应有助于监测和诊断APS 1、2或4型，并改善患者的护理。
Objective: Addison's disease (AD) is a rare endocrine condition.Design: We aimed to evaluate clinical, immunologic, adrenal imaging, and genetic features in 633 Italian patients with AD followed up since 1967.Methods: Adrenal cortex autoantibodies, presence of other autoimmune and nonautoimmune diseases, nonadrenal autoantibodies, adrenal imaging, and genetic profile for HLA-DRB1 and AIRE were analyzed.Results: A total of 492 (77.7%) patients were found to be affected by autoimmune AD (A-AD), 57 (9%) tuberculous AD, 29 (4.6%) genetic-associated AD, 10 (1.6%) adrenal cancer, six (0.94%) post-surgical AD, four (0.6%) vascular disorder-related AD, three (0.5%) post-infectious AD, and 32 (5.1%) were defined as idiopathic. Adrenal cortex antibodies were detected in the vast majority (88-100%) of patients with recent onset A-AD, but in none of those with nonautoimmune AD. Adrenal imaging revealed normal/atrophic glands in all A-AD patients: 88% of patients with A-AD had other clinical or subclinical autoimmune diseases or were positive for nonadrenal autoantibodies.Based on the coexistence of other autoimmune disorders, 65.6% of patients with A-AD were found to have type 2 autoimmune polyendocrine syndrome (APS2), 14.4% have APS1, and 8.5% have APS4. Class II HLA alleles DRB1*03 and DRB1*04 were increased, and DRB1*01, DRB1*07, DRB1*013 were reduced in APS2 patients when compared with controls. Of the patients with APS1, 96% were revealed to have AIRE gene mutations.Conclusions: A-AD is the most prevalent form of adrenal insufficiency in Italy, and similar to 90% of the patients are adrenal autoantibody-positive at the onset. Assessment of patients with A-AD for the presence of other autoimmune diseases should be helpful in monitoring and diagnosing APS types 1, 2, or 4 and improving patients' care.