一名患有自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良（APECED）的患者发生致命性自身免疫性肺炎，需要进行双叶肺切除术和网膜瓣修复术。
Fatal autoimmune pneumonitis requiring bilobectomy and omental flap repair in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
作者信息
Kubala Stephanie A, Do Huy M, Ferré Elise M N, Schrump David S, Olivier Kenneth N, Walls Jeffrey G, Lionakis Michail S, Folio Les R
机构信息
National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Radiology and Imaging Sciences, National Institutes of Health, Bethesda, MD, USA.
出版信息
Respir Med Case Rep. 2021 Jul 8;33:101476. doi: 10.1016/j.rmcr.2021.101476. eCollection 2021.
We present a severe case of progressive autoimmune pneumonitis requiring surgical intervention in a patient with the monogenic syndrome, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). APECED is caused by loss-of-function mutations in the autoimmune regulator () gene, which lead to impaired central immune tolerance and autoimmune organ destruction including pneumonitis, an underrecognized, life-threatening complication. When clinicians evaluate patients with pneumonitis, recurrent mucosal candidiasis, and autoimmunity, APECED should be considered in the differential. Additionally, in patients with established APECED, a chest computed tomography is preferred to identify pneumonitis early on and to promptly initiate lymphocyte-directed immunomodulatory treatment, which can prevent irreversible lung destruction.
我们报告了一例患有单基因综合征——自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良（APECED）的患者，其患有严重的进行性自身免疫性肺炎，需要手术干预。APECED由自身免疫调节因子（AIRE）基因的功能丧失突变引起，这会导致中枢免疫耐受受损以及包括肺炎在内的自身免疫性器官破坏，肺炎是一种未得到充分认识的危及生命的并发症。当临床医生评估患有肺炎、复发性黏膜念珠菌病和自身免疫的患者时，鉴别诊断中应考虑APECED。此外，对于已确诊APECED的患者，首选胸部计算机断层扫描以早期识别肺炎，并及时启动针对淋巴细胞的免疫调节治疗，这可以预防不可逆的肺破坏。
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