国际儿科学杂志
國際兒科學雜誌
국제인과학잡지
INTERNATIONAL JOURNAL OF PEDIATRICS
2011年
5期
484-486
,共3页
葡萄糖-6-磷酸脱氢酶缺乏症%新生儿高胆红素血症%胆红素%溶血%基因
葡萄糖-6-燐痠脫氫酶缺乏癥%新生兒高膽紅素血癥%膽紅素%溶血%基因
포도당-6-린산탈경매결핍증%신생인고담홍소혈증%담홍소%용혈%기인
Glucose-6-phosphate dehydrogenase deficiency%Hyperbilirubinemia%Neonatal%Bilirubin%Hemolysis%G ene
葡萄糖-6-磷酸脱氢酶缺乏症是一种常见的单基因遗传性疾病，在全球范围内分布非常广泛，而且人群中携带者频率很高。患者突然出现的急性溶血会导致血清总胆红素升高，引起高胆红素血症，甚至胆红素脑病。新生儿高胆红素血症是儿科医生经常遇到的问题，需要及时发现和处理。
葡萄糖-6-燐痠脫氫酶缺乏癥是一種常見的單基因遺傳性疾病，在全毬範圍內分佈非常廣汎，而且人群中攜帶者頻率很高。患者突然齣現的急性溶血會導緻血清總膽紅素升高，引起高膽紅素血癥，甚至膽紅素腦病。新生兒高膽紅素血癥是兒科醫生經常遇到的問題，需要及時髮現和處理。
포도당-6-린산탈경매결핍증시일충상견적단기인유전성질병，재전구범위내분포비상엄범，이차인군중휴대자빈솔흔고。환자돌연출현적급성용혈회도치혈청총담홍소승고，인기고담홍소혈증，심지담홍소뇌병。신생인고담홍소혈증시인과의생경상우도적문제，수요급시발현화처리。
Glucose-6-phosphate dehydrogenase deficiency is a common monogenic inheritance disorder, with extensive distribution around the world and very high gene frequency. Acute hemolysis may lead to rapidly rising of serum total bilirubin concentrations and may eventually result in bilirubin encephalopathy. The hyperbilirubinemia is the result of abnormal bilirubin metabolism due to complex interactions between G-6-phosphate dehydrogenase deficiency and the genetic co-expression. Neonatal unconjugated hyperbilirubinemia is one of the most common conditions encountered by the practicing pediatricians.
