Pediatric Immunohematology Service, Bone Marrow Transplant Center, Tunis, Tunisia.
Laboratories Service, Bone Marrow Transplant Center, Tunis, Tunisia.
Clin Pediatr (Phila). 2022 Oct;61(9):629-644. doi: 10.1177/00099228221096329. Epub 2022 Jun 8.
Chronic granulomatous disease (CGD) is an inherited autosomal recessive or X-Linked primitive immunodeficiency (PID), due to a defective nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex impairing anti-infectious and anti-inflammatory role of peripheral blood mononuclear cells. It is characterized by severe bacterial and fungal infections and by excessive inflammation leading to granulomatous complications. This work was made over a period of 34 years on 41 Tunisian patients suffering from CGD. Cumulative follow-up of patients was 2768.5 months, median 31 months. Survival was studied by survival curves according to Kaplan-Meier method. Lymphatic nodes, pulmonary and cutaneous infections predominate as revealing manifestations and as infectious events during patients' monitoring. At study end 12 patients died mainly of invasive pulmonary aspergillosis and septicemia. Median age of death was 30 months. CGD remains compatible with a decent quality of life. Early diagnosis, anti-infectious prophylaxis, and initiation of adequate management, as soon as complication is perceived, promote pretty good evolution.
慢性肉芽肿病（CGD）是一种遗传性常染色体隐性或 X 连锁原发性免疫缺陷（PID），由于烟酰胺腺嘌呤二核苷酸磷酸（NADPH）氧化酶复合物缺陷，外周血单个核细胞抗感染和抗炎作用受损。其特征为严重的细菌和真菌感染以及过度炎症导致肉芽肿性并发症。这项工作是在 34 年内对 41 名患有 CGD 的突尼斯患者进行的。患者的累计随访时间为 2768.5 个月，中位数为 31 个月。通过 Kaplan-Meier 方法的生存曲线研究了生存率。淋巴结、肺部和皮肤感染是主要的表现和感染事件，在患者监测期间。研究结束时，12 名患者主要死于侵袭性肺曲霉病和败血症。死亡的中位年龄为 30 个月。CGD 仍然具有良好的生活质量。早期诊断、抗感染预防以及一旦出现并发症就开始进行适当的治疗，可促进相当好的演变。
