Roos D
Central Laboratory of The Netherlands Red Cross Blood Transfusion Service, Amsterdam.
Immunol Rev. 1994 Apr;138:121-57. doi: 10.1111/j.1600-065x.1994.tb00850.x.
Chronic granulomatous disease is a serious clinical entity. The disease is caused by the failure of NADPH oxidase in phagocytic leukocytes to generate superoxide, needed for the killing of micro-organisms. The patients need careful management aimed at prevention and aggressive treatment of infections. CGD is a heterogeneous syndrome, both clinically and genetically. This disease is caused by a diversity of mutations, and multiple genes are affected. In fact, in the A22 and X91 subtypes of CGD, in which the alpha subunit and the beta subunit of cytochrome b558 are affected, respectively, the mutations are virtually unique for each CGD family tested. The results of these studies provide a better understanding of the mechanism of action of the various components of the superoxide-generating enzyme. Although treatment of CGD patients has improved considerably over the past 30 years, death caused by overwhelming infections is still a serious threat. Prenatal diagnosis now provides the relatives of a CGD patient with the possibility to choose for first-trimester abortion of an affected fetus. Moreover, genetic correction of the disease is now a goal within reach.
慢性肉芽肿病是一种严重的临床病症。该疾病是由吞噬性白细胞中的NADPH氧化酶无法产生杀灭微生物所需的超氧化物所致。患者需要精心管理，旨在预防和积极治疗感染。慢性肉芽肿病在临床和遗传方面都是一种异质性综合征。这种疾病由多种突变引起，多个基因受到影响。事实上，在慢性肉芽肿病的A22和X91亚型中，细胞色素b558的α亚基和β亚基分别受到影响，所测试的每个慢性肉芽肿病家族的突变实际上都是独特的。这些研究结果有助于更好地理解超氧化物生成酶各组分的作用机制。尽管在过去30年中慢性肉芽肿病患者的治疗有了很大改善，但由严重感染导致的死亡仍然是一个严重威胁。现在，产前诊断为慢性肉芽肿病患者的亲属提供了选择在孕早期终止受影响胎儿妊娠的可能性。此外，对该疾病进行基因矫正现在已指日可待。
