Mofokeng Thabiso R P, Beshyah Salem A, Ross Ian L
Division of Endocrinology, Department of Medicine, University of the Free State, Bloemfontein, South Africa.
Dubai Medical College for Girls, Dubai, UAE.
Int J Endocrinol. 2022 Aug 24;2022:8907864. doi: 10.1155/2022/8907864. eCollection 2022.
Africa comprises 54 countries with varying degrees of economic development. As with other healthcare systems, rare diseases such as adrenal insufficiency are neglected and poorly documented.
We wished to explore primary adrenal insufficiency (PAI) in Africa, its prevalence, aetiology, genetics, presentation, diagnosis, and treatment and to determine the unmet needs in clinical care, education, and research.
A narrative nonsystematic review of the literature was undertaken. We searched two online databases (PubMed and Google scholar) using the search terms "Addison's disease/PAI, primary adrenal insufficiency coupled with "Africa," "country names," and "genetic disorders." A total of 184 PAI records were reviewed. The exclusion of abstracts, conference proceedings, single case reports, and duplicate studies covering the same subject matter yielded 124 articles, of which 97 informed the final manuscript.
A wide range of aetiology of PAI was encountered, but their true prevalence is unknown. Aetiology varied with region and age of presentation as reflected by predominantly TB, HIV, and infective causes occurring in sub-Saharan Africa and more congenital forms described in North Africa associated with consanguinity. In Africa, the diagnostic criteria for PAI do not universally accord with conventional criteria, and there is a heavy reliance on clinical suspicion and biochemistry, including random cortisol of <400 nmol/L, rather than the tetracosactide test where stimulated cortisol <500-550 nmol/L confirms the diagnosis.
A high index of suspicion is warranted to diagnose PAI in resource-limited settings, especially where tetracosactide tests are not universally available.
非洲由54个经济发展程度各异的国家组成。与其他医疗体系一样，肾上腺皮质功能减退等罕见病受到忽视，且记录甚少。
我们希望探究非洲原发性肾上腺皮质功能减退（PAI）的患病率、病因、遗传学、临床表现、诊断及治疗情况，并确定临床护理、教育及研究方面未得到满足的需求。
进行了一项叙述性非系统性文献综述。我们使用搜索词“艾迪生病/PAI，原发性肾上腺皮质功能减退”，并结合“非洲”“国家名称”及“遗传疾病”，搜索了两个在线数据库（PubMed和谷歌学术）。共查阅了184条PAI记录。排除摘要、会议论文、单病例报告以及涵盖同一主题的重复研究后，得到124篇文章，其中97篇为最终稿件提供了信息。
PAI的病因多种多样，但其真实患病率尚不清楚。病因因地区和发病年龄而异，撒哈拉以南非洲主要为结核病、艾滋病病毒及感染性病因，而北非更多见与近亲结婚相关的先天性类型。在非洲，PAI的诊断标准并非普遍符合传统标准，且严重依赖临床怀疑及生化检查，包括随机皮质醇<400 nmol/L，而非促肾上腺皮质激素试验（刺激后皮质醇<500 - 550 nmol/L可确诊）。
在资源有限的环境中，尤其是促肾上腺皮质激素试验并非普遍可用的情况下，诊断PAI需要高度的怀疑指数。
