新生儿葡萄糖-6-磷酸脱氢酶缺乏症的筛查

Aliyeva S.T., Nabiyeva K.Z., Salimova A.T., Huseynova V.A.
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引用次数: 0

摘要

缺乏葡萄糖- 6 -磷酸脱氢酶(G6PD) - X连接酶缺陷,急性感染或摄入氧化剂(水杨酸盐和磺胺类)后可表现为溶血。诊断是基于G6PD水平,尽管在存在急性溶血的情况下,该测试经常给出假阴性结果。治疗是支持性的。由于这种病理是x连锁的,因此在男性和纯合子女性中观察到完整的临床图像;杂合子女性的临床表现各不相同。
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Screening of the defi ciency of glucose-6-phosphate dehydrogenase of newborn babies
Deficiency of glucose - 6 - phosphate dehydrogenase (G6PD) - X - linked enzyme defect, which can manifest itself as hemolysis after acute infections or ingestionoxidants (salicylates and sulfonamides). Diagnosis is based on G6PD levels, although the test often gives a false negative result in the presence of acute hemolysis. Treatment is supportive. Since this pathology is X-linked, the complete clinical picture is observed in men and homozygous women; in heterozygous women, clinical manifestations are variable.
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