Czarnetzki B M, Happle R, Belcher R W
Hautarzt. 1984 Apr;35(4):175-81.
Chronic granulomatous disease (CGD) is characterized by frequent uncontrollable infections which often lead to death in early childhood. The first clinical signs may be confined to the skin and manifest themselves as abscesses, pyoderma, eczema or draining sinuses. Frequently, lymph nodes, spleen, lungs or liver are also involved. The basic defect is a failure of leukocytes to kill certain bacteria or fungi. The exact biochemical defect is however not yet known. The diagnosis of CGD is based on the clinical picture and on a defect of the granulocytes, as proven by bactericidal, NBT-reduction or chemiluminescence tests. In most and possibly in all of the cases, the disease is X-linked, and the CGD-gene has been regionally assigned to the X-chromosome. The existence of a second type of CGD with autosomal recessive inheritance has been assumed by several authors. In order to improve the prognosis of CGD, it is essential that the disease is diagnosed as early as possible so that prompt treatment can be given.
慢性肉芽肿病(CGD)的特征是频繁发生难以控制的感染,这常常导致儿童早期死亡。最初的临床症状可能局限于皮肤,表现为脓肿、脓皮病、湿疹或引流窦。通常,淋巴结、脾脏、肺或肝脏也会受累。基本缺陷是白细胞无法杀死某些细菌或真菌。然而,确切的生化缺陷尚不清楚。CGD的诊断基于临床表现和粒细胞缺陷,杀菌、NBT还原或化学发光试验已证实这一点。在大多数甚至可能所有病例中,该疾病是X连锁的,CGD基因已被定位到X染色体区域。几位作者推测存在第二种常染色体隐性遗传的CGD类型。为了改善CGD的预后,尽早诊断疾病以便能够及时治疗至关重要。