Kaygusuz Yunus, Üstün Ceren, Er Ahmet Görkem, Kiki Zehranur, Yaz İsmail, Tüten-Dal Sevda, Üner Ayşegül, Çağdaş Deniz, İnkaya Ahmet Çağkan, Akova Murat
Department of Internal Medicine, Hacettepe University School of Medicine, Ankara, Türkiye.
Department of Pediatrics, Division of Immunology, Hacettepe University School of Medicine, Ankara, Türkiye.
Infect Dis Clin Microbiol. 2024 Dec 19;6(4):334-338. doi: 10.36519/idcm.2024.381. eCollection 2024 Dec.
Chronic granulomatous disease (CGD) is a congenital disorder impairing phagocyte function, causing recurrent, life-threatening infections, and is rarely seen in adulthood. We present a 36-year-old male initially diagnosed with pneumonia. Bronchoalveolar lavage and blood cultures yielded complex, sputum cultures . Despite the antimicrobial treatment, his condition deteriorated. His clinical and laboratory findings indicated hemophagocytic lymphohistiocytosis. He responded to steroids. Nitroblue tetrazolium and dihydroergotamine-123 tests confirmed CGD. Whole exome sequencing identified deletion. He received interferon-gamma, voriconazole, and trimethoprim-sulfamethoxazole. Allogeneic hematopoietic stem cell transplantation was planned. This case report improves understanding of CGD in adults, aiming to enhance diagnostic and therapeutic strategies.
慢性肉芽肿病（CGD）是一种损害吞噬细胞功能的先天性疾病，可导致反复发生的、危及生命的感染，在成年期很少见。我们报告一名36岁男性，最初诊断为肺炎。支气管肺泡灌洗和血培养产生了复杂的痰培养结果。尽管进行了抗菌治疗，他的病情仍恶化。他的临床和实验室检查结果表明存在噬血细胞性淋巴组织细胞增生症。他对类固醇有反应。硝基蓝四氮唑和二氢麦角胺-123试验证实了CGD。全外显子测序确定了缺失。他接受了γ干扰素、伏立康唑和甲氧苄啶-磺胺甲恶唑治疗。计划进行异基因造血干细胞移植。本病例报告有助于提高对成人CGD的认识，旨在加强诊断和治疗策略。
