对黄疸新生儿进行葡萄糖-6-磷酸脱氢酶缺乏症筛查。

Screening of jaundiced neonates for glucose-6-phosphate dehydrogenase deficiency.

作者信息

Leung A K

出版信息

South Med J. 1987 Feb;80(2):217-8. doi: 10.1097/00007611-198702000-00019.

DOI:10.1097/00007611-198702000-00019

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is transmitted as an X-linked recessive disorder, and thus female infants are expected to be only rarely affected. Review of the records of 1,478 jaundiced newborn infants (728 boys and 750 girls) screened for G6PD deficiency at the Foothills Provincial Hospital in Calgary showed 41 (5.6%) boys and 17 (2.2%) girls with this disorder. In view of the unexpected and unexplained high frequency of G6PD deficiency in female infants, I recommend that screening for this disorder be done in selected jaundiced infants regardless of sex.

摘要

葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症作为一种X连锁隐性疾病遗传，因此预计女婴很少受到影响。对卡尔加里山麓省立医院筛查G6PD缺乏症的1478名黄疸新生儿（728名男孩和750名女孩）的记录进行回顾发现，患有这种疾病的男孩有41名（5.6%），女孩有17名（2.2%）。鉴于女婴中G6PD缺乏症出现了意外且无法解释的高发病率，我建议对选定的黄疸婴儿进行这种疾病的筛查，无论其性别如何。