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[一位老年患者的罕见2型自身免疫性多腺体综合征病例]

[A rare case of autoimmune polyglandular syndrome type 2 in an elderly patient].

作者信息

Zulfiqar Abrar-Ahmad

机构信息

Service de Médecine Interne, Diabète et Maladies métaboliques, Clinique Médicale B, Hôpitaux Universitaires de Strasbourg y Equipe EA 3072 Mitochondrie, Stress oxydant et Protection musculaire, Faculté de Médecine, Université de Strasbourg, Strasbourg, France. E-mail:

出版信息

Medicina (B Aires). 2025;85(4):872-875.

PMID:40793900
Abstract

Autoimmune polyglandular syndrome type 2 (APS-2) is a rare and complex clinical entity, whose etiology and evolution are not fully understood. We present the case of a 78-year-old male, followed and treated for Addison's disease for 45 years, in whom macrocytosis with a hemoglobin level of 11.8 g/dL was detected during a routine evaluation. The immunological vitamin B12 deficiency led to the diagnosis of Biermer's disease, while the thyroid, diabetic and liver immunological evaluations were negative. Treatment was started with periodic injections of vitamin B12 and hormone replacement therapy (glucocorticoids and mineralocorticoids) was adjusted, which produced a favorable clinical response with progressive normalization of macrocytosis and hemoglobin levels. Long-term follow-up confirmed clinical stability and effective control of the autoimmune evolution. APS-2 is defined as the coexistence of autoimmune Addison's disease with autoimmune thyroid diseases (such as Graves' disease or Hashimoto's thyroiditis) and/or type 1 diabetes mellitus, in the absence of hypoparathyroidism. Various genetic and environmental factors appear to contribute to its development, although its exact etiology remains unknown. This clinical case supports the recommendation of active screening for autoimmune disorders in patients with Addison's disease.

摘要

2型自身免疫性多腺体综合征(APS-2)是一种罕见且复杂的临床病症,其病因和演变尚未完全明确。我们报告一例78岁男性病例,该患者患艾迪生病并接受治疗45年,在一次常规评估中检测到血红蛋白水平为11.8 g/dL的大细胞性贫血。免疫性维生素B12缺乏导致了恶性贫血的诊断,而甲状腺、糖尿病和肝脏的免疫学评估均为阴性。开始定期注射维生素B12并调整激素替代疗法(糖皮质激素和盐皮质激素),这产生了良好的临床反应,大细胞性贫血和血红蛋白水平逐渐恢复正常。长期随访证实了临床稳定性以及对自身免疫进展的有效控制。APS-2被定义为自身免疫性艾迪生病与自身免疫性甲状腺疾病(如格雷夫斯病或桥本甲状腺炎)和/或1型糖尿病同时存在,且无甲状旁腺功能减退。尽管其确切病因尚不清楚,但各种遗传和环境因素似乎都对其发病有影响。该临床病例支持对艾迪生病患者进行自身免疫性疾病积极筛查的建议。

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