Surani Asif, Carroll Ty B
Division of Endocrinology and Molecular Medicine, Department of Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin.
Division of Endocrinology and Molecular Medicine, Department of Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin.
Endocr Pract. 2025 Jun;31(6):813-820. doi: 10.1016/j.eprac.2025.04.008. Epub 2025 Apr 26.
Primary adrenal insufficiency (PAI), or Addison's disease, results from adrenal gland dysgenesis or destruction, leading to impaired production of glucocorticoids, mineralocorticoids, and adrenal androgens. Our understanding of the etiology, pathophysiology, and clinical manifestations of PAI has significantly evolved since this condition was originally described.
Over the past 3 decades, the epidemiology and demographics of PAI has shifted, with autoimmune PAI now recognized as the most common cause. This shift has been influenced by increasing awareness of autoimmunity and the widespread use of immune modulating medications, such as immune checkpoint inhibitors. The diagnosis of PAI is often delayed, likely due to its nonspecific clinical presentation. This delay may result in increased morbidity and mortality from adrenal crisis. While treatment involves lifelong hormone replacement therapy, optimizing glucocorticoid dosing remains a challenge. Emerging therapeutic approaches focus on preserving residual adrenal function and preventing disease progression, offering hope for improved long-term outcomes.
This review provides an updated overview of the epidemiology, pathophysiology, and future directions in the care of autoimmune PAI. It examines key pathophysiologic and autoimmune features of PAI and explores future directions aimed at identifying genetic and molecular markers that may change the diagnosis, treatment, and outcome of this important endocrinopathy.
原发性肾上腺功能不全(PAI),即艾迪生病,是由肾上腺发育不全或破坏引起的,导致糖皮质激素、盐皮质激素以及肾上腺雄激素分泌受损。自从最初描述这种病症以来,我们对PAI的病因、病理生理学和临床表现的认识有了显著进展。
在过去30年里,PAI的流行病学和人口统计学特征发生了变化,自身免疫性PAI现在被认为是最常见的病因。这种变化受到自身免疫意识增强以及免疫调节药物(如免疫检查点抑制剂)广泛使用的影响。PAI的诊断常常延迟,这可能是由于其临床表现不具特异性。这种延迟可能导致肾上腺危象的发病率和死亡率增加。虽然治疗需要终身激素替代疗法,但优化糖皮质激素剂量仍然是一个挑战。新兴的治疗方法侧重于保留残余肾上腺功能并预防疾病进展,为改善长期预后带来了希望。
本综述提供了自身免疫性PAI护理方面流行病学、病理生理学和未来方向的最新概述。它研究了PAI的关键病理生理和自身免疫特征,并探索了旨在识别可能改变这种重要内分泌疾病诊断、治疗和预后的遗传和分子标志物的未来方向。