Locatelli A, Béné M-C, Zuily S, Angioi-Duprez K
Service d'ophtalmologie, CHU de Nancy-Brabois, allée du Morvan, 54511 Vandœuvre-lès-Nancy cedex, France.
J Fr Ophtalmol. 2013 Nov;36(9):789-95. doi: 10.1016/j.jfo.2013.07.002. Epub 2013 Oct 4.
Chronic granulomatous disease (CGD) is a rare genetic immune deficiency due to defective oxygen metabolism in phagocytic cells. It results in recurrent severe bacterial and fungal infections in patients from an early age on. Inflammatory lesions are also observed, with the formation of granulomas. Diagnosis relies on the demonstration of a deficiency in the oxidative properties of phagocytes. Pulmonary infections are the most frequent clinical manifestations of the disease, yet all organs can be involved, such as the eye, with either infections or inflammatory chorioretinal lesions. The treatment of CGD relies on prophylaxis to avoid infections, and on the rapid management of infectious and inflammatory episodes. The only cure to date is allogenetic bone marrow transplant, which requires a compatible donor and can only be considered in certain clinical situations.
慢性肉芽肿病（CGD）是一种罕见的遗传性免疫缺陷病，由于吞噬细胞中的氧代谢缺陷所致。从幼年起，患者就会反复发生严重的细菌和真菌感染。还会观察到炎症性病变，并形成肉芽肿。诊断依赖于证明吞噬细胞氧化特性的缺陷。肺部感染是该疾病最常见的临床表现，但所有器官都可能受累，如眼睛，可出现感染或炎症性脉络膜视网膜病变。CGD的治疗依赖于预防以避免感染，以及对感染和炎症发作的快速处理。迄今为止，唯一的治愈方法是同种异体骨髓移植，这需要一个匹配的供体，并且只能在某些临床情况下考虑。
