Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.
Internal Medicine Department, Respiratory Unit and Cystic Fibrosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano, Milan, Italy.
BMC Pulm Med. 2024 Oct 30;24(1):543. doi: 10.1186/s12890-024-03149-9.
The rare monogenic syndrome Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) leads to multisystemic autoimmunity with possible lung involvement. Autoimmune pneumonitis is a rare manifestation, with bronchiectasis being the most frequent radiologic pattern, and may lead to fatal outcome. The Sardinian population in Italy has a high incidence of APECED, although no case of lung manifestation has been reported yet in this cohort. This is the case of a Sardinian APECED patient referred to a bronchiectasis clinic. Our aim is to raise awareness and screen these patients earlier for pulmonary involvement and to initiate multidisciplinary treatment for better outcome.
A 49-year-old female native of Sardinia from consanguineous parents was diagnosed with APECED in childhood and was referred to our bronchiectasis clinic in March 2023. In addition to typical APECED features, she reported recurrent respiratory infections since childhood, chronic purulent sputum and a hospitalization for pneumonia. She came to our attention with a recent isolation of P. aeruginosa on sputum culture and diffuse cylindrical and varicoid bronchiectasis on her first CT scan. She underwent aetiologic screening for bronchiectasis with no evidence of another cause of disease. Lung treatment was optimized according to bronchiectasis guidelines, and during follow-up the patient developed methicillin-resistant Staphylococcus aureus (MRSA) infection and M. intracellulare pulmonary disease. The patient was offered P. aeruginosa eradication treatment with intravenous antibiotics and initiation of antimycobacterial therapy.
This is the first documented lung involvement case of APECED in a Sardinian patient, and the first patient reported to enter a bronchiectasis program. The patient was prescribed lung imaging late in time when bronchiectasis complications were already present. Our case report highlights the need for early pulmonary screening and multidisciplinary management in patients with APECED.
罕见的单基因综合征自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良（APECED）可导致多系统自身免疫，可能伴有肺部受累。自身免疫性肺炎是一种罕见的表现，支气管扩张症是最常见的放射学模式，可能导致致命后果。意大利撒丁岛人群 APECED 发病率较高，尽管该人群尚未报告肺部表现病例。这是一位来自撒丁岛的 APECED 患者转诊至支气管扩张症诊所的病例。我们的目的是提高对肺部受累的认识，并更早地对这些患者进行筛查，以便启动多学科治疗以获得更好的结果。
一位 49 岁的女性，来自撒丁岛，父母为近亲结婚，儿童时期被诊断为 APECED，并于 2023 年 3 月转诊至我们的支气管扩张症诊所。除了典型的 APECED 特征外，她还自述儿童时期反复发生呼吸道感染、慢性脓性痰和因肺炎住院。她因痰液培养分离出铜绿假单胞菌和首次 CT 扫描显示弥漫性柱状和曲张性支气管扩张而引起我们的关注。她接受了支气管扩张症病因筛查，但未发现其他疾病的病因。根据支气管扩张症指南优化了肺部治疗，在随访期间，患者发生耐甲氧西林金黄色葡萄球菌（MRSA）感染和胞内分枝杆菌肺部疾病。患者接受了铜绿假单胞菌清除治疗，给予静脉抗生素和抗分枝杆菌治疗。
这是首例在撒丁岛患者中记录的 APECED 肺部受累病例，也是首例报告进入支气管扩张症计划的患者。当支气管扩张症并发症已经存在时，患者才接受肺部影像学检查，时间较晚。我们的病例报告强调了对 APECED 患者进行早期肺部筛查和多学科管理的必要性。
Zotero 插件