Szyguła E, Jacheć W, Poloński L, Kuśnierz B
II Katedra i Klinika Kardiologii w Zabrzu Sl. AM w Katowicach.
Pol Arch Med Wewn. 1995 Jun;93(6):520-4.
Cyanosis in a 36 year old patient which persisted 20 years after a successful surgical closure of her patent foramen ovale has been finally diagnosed as due to congenital methemoglobinemia: a 28% level of methaemoglobin and no activity od NAD-dependent methaemoglobin reductase were found. Erythrocyte antioxidative system was studied i.e. glutathione peroxidase, reductase, transferase, superoxidase dismutase and glucose-6-phosphate dehydrogenase. Increased activity was disclosed of superoxide dismutase and glucose-6-phosphate dehydrogenase in erythrocytes in comparison to normal individuals as well as increased concentration of lipid peroxidation products coexisting with methaemoglobin reductase deficiency.
一名36岁患者在卵圆孔未闭成功手术闭合20年后仍持续存在发绀，最终被诊断为先天性高铁血红蛋白血症：发现高铁血红蛋白水平为28%，且NAD依赖性高铁血红蛋白还原酶无活性。对红细胞抗氧化系统进行了研究，即谷胱甘肽过氧化物酶、还原酶、转移酶、超氧化物歧化酶和葡萄糖-6-磷酸脱氢酶。与正常个体相比，红细胞中超氧化物歧化酶和葡萄糖-6-磷酸脱氢酶的活性增加，同时存在高铁血红蛋白还原酶缺乏和脂质过氧化产物浓度增加的情况。
