巴西南部黄疸新生儿的葡萄糖-6-磷酸脱氢酶缺乏症及其与其他危险因素的相关性。
Glucose-6-phosphate-dehydrogenase deficiency and its correlation with other risk factors in jaundiced newborns in Southern Brazil.
作者信息
Carvalho Clarissa Gutiérrez, Castro Simone Martins, Santin Ana Paula, Zaleski Carina, Carvalho Felipe Gutiérrez, Giugliani Roberto
机构信息
Genetics Service, Hospital de Clínicas de Porto Alegre, PGP in Pediatrics, UFRGS, Porto Alegre, RS, Brazil.
出版信息
Asian Pac J Trop Biomed. 2011 Apr;1(2):110-3. doi: 10.1016/S2221-1691(11)60006-3.
OBJECTIVE
To evaluate the correlation between glucose-6-phosphate-dehydrogenase (G6PD) deficiency and neonatal jaundice.
METHODS
Prospective, observational case-control study was conducted on 490 newborns admitted to Hospital de Clínicas de Porto Alegre for phototherapy, who all experienced 35 or more weeks of gestation, from March to December 2007. Enzymatic screening of G6PD activity was performed, followed by PCR.
RESULTS
There was prevalence of 4.6% and a boy-girl ratio of 3:1 in jaundiced newborns. No jaundiced neonate with ABO incompatibility presented G6PD deficiency, and no Mediterranean mutation was found. A higher proportion of deficiency was observed in Afro-descendants. There was no association with UGT1A1 variants.
CONCLUSIONS
G6PD deficiency is not related to severe hyperbilirubinemia and considering the high miscegenation in this area of Brazil, other gene interactions should be investigated.
目的
评估葡萄糖-6-磷酸脱氢酶（G6PD）缺乏与新生儿黄疸之间的相关性。
方法
对2007年3月至12月在阿雷格里港临床医院因接受光疗而入院的490例孕周达到或超过35周的新生儿进行前瞻性观察性病例对照研究。进行了G6PD活性的酶学筛查，随后进行聚合酶链反应（PCR）。
结果
黄疸新生儿中G6PD缺乏的患病率为4.6%，男女比例为3:1。没有ABO血型不合的黄疸新生儿出现G6PD缺乏，也未发现地中海突变。在非洲后裔中观察到较高比例的G6PD缺乏。未发现与尿苷二磷酸葡萄糖醛酸基转移酶1A1（UGT1A1）变体有关联。
结论
G6PD缺乏与严重高胆红素血症无关，鉴于巴西该地区的高度混血情况，应研究其他基因相互作用。
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