Falorni Alberto, Laureti Stefano, De Bellis Annamaria, Zanchetta Renato, Tiberti Claudio, Arnaldi Giorgio, Bini Vittorio, Beck-Peccoz Paolo, Bizzarro Antonio, Dotta Francesco, Mantero Franco, Bellastella Antonio, Betterle Corrado, Santeusanio Fausto
Department of Internal Medicine, University of Perugia, 06126 Perugia, Italy.
J Clin Endocrinol Metab. 2004 Apr;89(4):1598-604. doi: 10.1210/jc.2003-030954.
Primary adrenal insufficiency (PAI) is clinically evident in one in 8000 individuals. A correct etiological classification is critical for correct disease management. To update the diagnostic criteria for the etiological classification of PAI, a multicentric network was established in Italy, and 222 patients with PAI were studied. Both 21-hydroxylase and adrenal cortex autoantibodies (21OHAb and ACA, respectively) were tested in two independent laboratories on coded samples and found in 65-66% and 58-61% of cases, respectively. Autoimmune polyendocrine syndrome I was diagnosed in 11 of the 222 patients. Of the remaining 211 patients, 38 (18%) had a nonautoimmune form of PAI. In 145 subjects (65%), the presence of adrenal autoantibodies, without signs of other forms of PAI, led to a diagnosis of autoimmune Addison's disease. In six cases (3%), PAI remained idiopathic. Logistic regression analysis showed a 92.2-92.7% probability of correct reclassification for the two 21OHAb assays and 84.5-85.9% for the ACA assays. We conclude that the simultaneous presence of both 21OHAb and ACA permits unambiguous diagnosis of autoimmune Addison's, whereas subjects with low antibody titers should undergo both instrumental and biochemical tests to exclude other causes of PAI. Lastly, we developed a comprehensive flowchart for the classification of PAI for use in routine clinical practice.
原发性肾上腺皮质功能减退症（PAI）在8000人中就有1例临床症状明显。正确的病因分类对于正确的疾病管理至关重要。为更新PAI病因分类的诊断标准，意大利建立了一个多中心网络，并对222例PAI患者进行了研究。在两个独立实验室对编码样本检测了21-羟化酶和肾上腺皮质自身抗体（分别为21OHAb和ACA），发现分别在65%-66%和58%-61%的病例中呈阳性。222例患者中有11例被诊断为自身免疫性多内分泌腺综合征I型。其余211例患者中，38例（18%）患有非自身免疫性PAI。在145例受试者（65%）中，存在肾上腺自身抗体但无其他PAI形式的迹象，从而诊断为自身免疫性艾迪生病。6例（3%）PAI仍为特发性。逻辑回归分析显示，两种21OHAb检测正确重新分类的概率为92.2%-92.7%，ACA检测为84.5%-85.9%。我们得出结论，21OHAb和ACA同时存在可明确诊断自身免疫性艾迪生病，而抗体滴度低的受试者应同时进行仪器和生化检测以排除PAI的其他病因。最后，我们制定了一个用于常规临床实践的PAI分类综合流程图。
