Rister M
Dtsch Med Wochenschr. 1980 Dec 26;105(52):1814-6. doi: 10.1055/s-2008-1070965.
Chronic granulomatous disease is caused by an X chromosome-linked granulocyte function defect whereby the superoxide radical (O2-) and hydrogen peroxide are not formed during phagocytosis. In the course of the investigation of the family of a boy with chronic granulomatosis disease carriers could not be established using the NBT test. Only determination of O2- formation by granulocytes during phagocytosis led to identification of disease carriers. This may possibly represent a means for prenatal diagnosis.
慢性肉芽肿病由X染色体连锁的粒细胞功能缺陷引起,即吞噬过程中不会形成超氧自由基(O2-)和过氧化氢。在对一名患有慢性肉芽肿病男孩的家族进行调查的过程中,无法通过硝基蓝四氮唑试验确定携带者。只有通过测定吞噬过程中粒细胞形成O2-才能识别疾病携带者。这可能是一种产前诊断的方法。