自体免疫多核多烯症候群性外皮缩症 (APECED):英国三级儿科医院的一系列病例和经验
Alaa Baioumi1,2, Karthik Darma3, Lakshmi Selvarajan4
1Department of Paediatric Diabetes and Endocrinology, University Hospitals Bristol NHS Foundation Trust, Bristol Royal Hospital for Children, Bristol, UK.
Journal of pediatric endocrinology & metabolism : JPEM
|February 19, 2026
概括
自体免疫多核多类病候群性皮肤外 (APECED) 诊断需要跨学科的合作. 早期对21-OH等自身抗体的查有助于预测和预防与APECED相关的并发症.
科学领域:
- 遗传学和免疫学 遗传学和免疫学
- 儿科自身免疫性疾病 儿童自身免疫性疾病
背景情况:
- 自身免疫性多发性肌病候群性外皮变 (APECED) 是一种罕见的多系统性自身免疫性疾病.
- 由于AIRE基因的变异,APECED的诊断往往会延迟.
- 一个专门的儿科APECED诊所于2024年成立.
研究的目的:
- 描述4名儿科APECED患者的诊断旅程,疾病进展和管理挑战.
- 强调专业护理和早期干预的重要性.
主要方法:
- 4名被诊断患有APECED的患者的回顾性病例系列.
- 对临床病史,疾病表现和治疗策略的审查.
- 包括来自英格兰西南部的患者.
主要成果:
- 所有患者在内分泌病变之前都出现了慢性粘膜皮肤候群病和指甲真菌感染.
- 甲状腺功能低下是最常见的内分泌问题 (3/4患者).
- 还观察到胰腺外分泌功能障碍和原发性卵巢缺陷; 讨论了生育能力的保护.
结论:
- 跨专业的合作对于管理APECED并发症至关重要.
- 新兴的免疫调节疗法提供了疾病修饰的潜力.
- 针对自身抗体 (例如21-OH) 的积极查可以实现早期干预并预防长期发病率.
相关概念视频
Skin Diseases and Disorders
5.4K
Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
5.4K
Skin Cancer
5.2K
Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
5.2K
Acne Infection
94
Acne is a multifactorial skin condition primarily affecting adolescents and young adults, with a global prevalence estimated to exceed 75% in this demographic. The condition is characterized by the formation of comedones (blackheads and whiteheads), papules, pustules, nodules, and, in severe cases, cysts, particularly in areas rich in sebaceous glands such as the face, neck, chest, and back. The pathogenesis involves increased sebum production, follicular hyperkeratinization, colonization by...
94


