Napier Catherine, Pearce Simon H S
Newcastle-upon-Tyne Hospitals NHS trust, Royal Victoria Infirmary, Endocrine Unit, Newcastle upon Tyne, NE1 4LP, United Kingdom.
Presse Med. 2012 Dec;41(12 P 2):e626-35. doi: 10.1016/j.lpm.2012.09.010. Epub 2012 Nov 21.
Addison's disease is a rare autoimmune disorder. In the developed world, autoimmune adrenalitis is the commonest cause of primary adrenal insufficiency, where the majority of patients have circulating antibodies against the key steroidogenic enzyme 21-hydroxylase. A complex interplay of genetic, immunological and environmental factors culminates in symptomatic adrenocortical insufficiency, with symptoms typically developing over months to years. Biochemical evaluation and further targeted investigations must confirm primary adrenal failure and establish the underlying aetiology. The diagnosis of adrenocortical insufficiency will necessitate lifelong glucocorticoid and mineralocorticoid replacement therapy, aiming to emulate physiological patterns of hormone secretion to achieve well-being and good quality of life. Education of patients and healthcare professionals is essential to minimise the risk of a life-threatening adrenal crisis, which must be promptly recognised and aggressively managed when it does occur. This article provides an overview of our current understanding of the natural history and underlying genetic and immunological basis of this condition. Future research may reveal novel therapeutic strategies for patient management. Until then, optimisation of pharmacological intervention and continued emphasis on education and empowerment of patients should underpin the management of individuals with autoimmune Addison's disease.
艾迪生病是一种罕见的自身免疫性疾病。在发达国家，自身免疫性肾上腺炎是原发性肾上腺功能不全最常见的病因，大多数患者体内存在针对关键类固醇生成酶21-羟化酶的循环抗体。遗传、免疫和环境因素的复杂相互作用最终导致有症状的肾上腺皮质功能不全，症状通常在数月至数年期间逐渐出现。生化评估和进一步的针对性检查必须证实原发性肾上腺功能衰竭并确定潜在病因。肾上腺皮质功能不全的诊断需要终身进行糖皮质激素和盐皮质激素替代治疗，旨在模拟激素分泌的生理模式，以实现健康和良好的生活质量。对患者和医护人员进行教育对于将危及生命的肾上腺危象风险降至最低至关重要，肾上腺危象一旦发生必须迅速识别并积极处理。本文概述了我们目前对这种疾病的自然史以及潜在遗传和免疫基础的理解。未来的研究可能会揭示针对患者管理的新治疗策略。在此之前，优化药物干预并持续强调对患者的教育和赋能应成为自身免疫性艾迪生病患者管理的基础。
