Faculty of Medicine, Department of Pediatrics, Hacettepe University, 06100, Ankara, Turkey.
Faculty of Medicine, Department of Pediatrics, Division of Immunology, Hacettepe University, 06100, Ankara, Turkey.
J Clin Immunol. 2021 Jul;41(5):992-1003. doi: 10.1007/s10875-021-01002-w. Epub 2021 Feb 24.
Chronic granulomatous disease (CGD), one of the phagocytic system defects, is the primary immunodeficiency caused by dysfunction of the NADPH oxidase complex which generates reactive oxygen species (ROS), which are essential for killing pathogenic microorganisms, especially catalase-positive bacteria and fungi.
The objective of our study was to assess the clinical and laboratory characteristics, treatment modalities, and prognosis of patients with CGD.
We retrospectively reviewed 63 patients with CGD who have been diagnosed, treated, and/or followed-up between 1984 and 2018 in Hacettepe University, Ankara, in Turkey, as a developing country.
The number of female and male patients was 26/37. The median age at diagnosis was 3.8 (IQR: 1.0-9.6) years. The rate of consanguinity was 63.5%. The most common physical examination finding was lymphadenopathy (44/63), growth retardation (33/63), and hepatomegaly (27/63). One adult patient had squamous cell carcinoma of the lung. The most common infections were lung infection (53/63), skin abscess (43/63), and lymphadenitis (19/63). Of the 63 patients with CGD, 6 patients had inflammatory bowel disease (IBD). Twelve of the 63 patients died during follow-up. CYBA, NCF1, CYBB, and NCF2 mutations were detected in 35%, 27.5%, 25%, and 12.5% of the patients, respectively.
We identified 63 patients with CGD from a single center in Turkey. Unlike other cohort studies in Turkey, due to the high consanguineous marriage rate in our study group, AR form of CGD was more frequent, and gastrointestinal involvement were found at relatively lower rates. The rate of patients who treated with HSCT was lower in our research than in the literature. A majority of the patients in this study received conventional prophylactic therapies, which highlight on the outcome of individuals who have not undergone HSCT.
慢性肉芽肿病（CGD）是吞噬细胞系统缺陷之一，是由 NADPH 氧化酶复合物功能障碍引起的原发性免疫缺陷病，该复合物产生活性氧（ROS）对于杀死致病微生物，特别是过氧化氢酶阳性细菌和真菌至关重要。
本研究旨在评估 CGD 患者的临床和实验室特征、治疗方式和预后。
我们回顾性分析了 1984 年至 2018 年期间在土耳其安卡拉哈塞特佩大学诊断、治疗和/或随访的 63 例 CGD 患者，这是一个发展中国家。
女性和男性患者的数量分别为 26/37。中位诊断年龄为 3.8（IQR：1.0-9.6）岁。血缘关系的比例为 63.5%。最常见的体格检查发现是淋巴结病（44/63）、生长迟缓（33/63）和肝肿大（27/63）。1 例成年患者患有肺鳞状细胞癌。最常见的感染是肺部感染（53/63）、皮肤脓肿（43/63）和淋巴结炎（19/63）。在 63 例 CGD 患者中，有 6 例患有炎症性肠病（IBD）。12 例患者在随访期间死亡。在 63 例患者中，分别检测到 CYBA、NCF1、CYBB 和 NCF2 突变的占 35%、27.5%、25%和 12.5%。
我们从土耳其的一个单一中心鉴定了 63 例 CGD 患者。与土耳其的其他队列研究不同，由于我们研究组的近亲结婚率较高，AR 形式的 CGD 更为常见，并且胃肠道受累的发生率相对较低。与文献相比，我们的研究中接受 HSCT 治疗的患者比例较低。本研究中的大多数患者接受了常规预防治疗，这突显了未接受 HSCT 的个体的结局。
