Mills E L, Rholl K S, Quie P G
J Clin Microbiol. 1980 Jul;12(1):52-6. doi: 10.1128/jcm.12.1.52-56.1980.
Patients with chronic granulomatous disease have a marked defect in neutrophil oxidative metabolism and microbicidal activity. Asymptomatic mothers of males with the disease can usually be identified as heterozygous carriers by intermediate leukocyte function. Most mothers of females with the disease, however, have normal leukocyte function, and the pattern of genetic transmission in these families has been difficult to establish. Of 14 mothers of males and females with chronic granulomatous disease, 10 had been found previously to have intermediate values for neutrophil bactericidal activity, oxygen consumption, hexose monophosphate shunt activity, and Nitro Blue Tetrazolium reduction, and 4 had normal in viro leukocyte function. In the present study, 4 of these 14 mothers had normal neutrophil bactericidal activity, 3 had normal zymosan-stimulated chemiluminescence, but none had normal luminol-amplified zymosan-stimulated chemiluminescence. The presence of luminol (5-amino-2,3-dehydro-1,4-phthalazinedione) in the phagocytic mixtures markedly increased the sensitivity of the assay, permitting detection of subtle defects in leukocyte oxidative metabolism in three previously unidentifiable carriers of the disease. Thus, luminol-amplified chemiluminescence appears to be one of the most sensitive methods available for detection of chronic granulomatous disease heterozygotes; the simplicity and reproducibility of the microtechnique permit evaluation of leukocyte function in infants and newborns.
慢性肉芽肿病患者的中性粒细胞氧化代谢和杀菌活性存在明显缺陷。患有该病的男性的无症状母亲通常可通过中等白细胞功能被鉴定为杂合子携带者。然而，患有该病的女性的大多数母亲白细胞功能正常，这些家族中的遗传传递模式难以确定。在14位患有慢性肉芽肿病的男性和女性的母亲中，先前已发现10位母亲的中性粒细胞杀菌活性、氧消耗、磷酸己糖旁路活性和硝基蓝四氮唑还原试验结果处于中等水平，4位母亲的体外白细胞功能正常。在本研究中，这14位母亲中有4位中性粒细胞杀菌活性正常，3位酵母聚糖刺激的化学发光正常，但无人的鲁米诺增强的酵母聚糖刺激的化学发光正常。吞噬混合物中鲁米诺（5-氨基-2,3-二氢-1,4-酞嗪二酮）的存在显著提高了检测的灵敏度，使得能够在三位先前无法识别的疾病携带者中检测到白细胞氧化代谢的细微缺陷。因此，鲁米诺增强的化学发光似乎是检测慢性肉芽肿病杂合子最敏感的方法之一；该微技术的简单性和可重复性允许对婴儿和新生儿的白细胞功能进行评估。
