摘要
目的分析基因突变及临床疾病对新生儿重症高胆红素血症形成的影响。方法选择在北京儿童医院新生儿内科病房住院的出生14d之内的足月和早产儿，血清胆红素峰值达342Ixmol／L以上，以非结合胆红素增高为主，非结合胆红素占总胆红素的80％以上的患儿97例为重症高胆红素组；选择足月和早产儿生后14d之内血清胆红素峰值小于342p,mol／L，分别大于220．5txmol／L和256．5Ixmol／L的患儿105例为非重症高胆红素组。应用Logistic回归模型分析引起新生儿重症高胆红素血症的影响因素。结果单因素分析重症高胆红素血症组早产者占16．4％；UGTIAl和OATP2基因突变发生率分别为56．7％和50．5％。非重症高胆红素血症组早产者占4．7％；UGTlAl和OATP2基因突变发生率分别为30．3％和28．5％，差异均有统计学意义。Logistic回归分析显示，UGTlAl、OATP2基因突变因素是引起重症高胆红素血症的影响因素。结论UGTlAl和OATP2基因突变可能是临床引起重症高胆红素血症的主要原因，故对临床原因不明高胆要加强UGTIAl和OATP2基因的检测。
Objective To investigate the associations between polymorphisms of genes encoding UDP-glucurono- syhransferase 1A1 （UGT1A1） and organic anion transporter 2 （OATP2） and the risk of severe hyperbilirubinemia in neo- nates. Methods A case-control study was conducted at the Neonatal Center of Beijing Children＇ s Hospital. Severe neo- natal hyperbilirubinemia was diagnosed when a newborn had a peak bilirubin level ≥ 342 μmol/L in serum within 14 d of birth, with unconjugatcd bilirubin/total bilirubin ≥ 80 %. Controls were selected in neonates who had peak serum biliru- bin levels 〈342 μmol/L, but higher than 220.5 μmol/L in term and 256.5 μmol/L in premature birth infant. Newborns who had liver disease or hepatitis B surface antigen positive were excluded. Clinical risk factors included infection, asphyx- ia （Apgar score ≤7） , cephalohematoma, premature birth, ABO or RH incompatibility, and heredity metabolic disease. Polymorphisms of UGT1A1 and OATP2 were genotyped. Results 97 cases and 105 controls were enrolled. There were more preterm births （16.4 % ） in the case group than in the control group （4.7 % ）. The frequency of mutation in UGT1A1 and OATP2 were 56.7 % and 50.5 %, respectively in the case group, and 30.3 % and 28.5 %, respectively in the control group. Logistic regression showed that preterm birth and the gene variant of these two gene were associated with an elevated for severe neonatal hyperbilirubinemia. Conclusion Mutation of UGT1 A1 and OATlY2 may contribute to the genetic susceptibility to severe neonatal hyperbilirubinemia.
出处
《中国生育健康杂志》
2013年第4期274-278,共5页
Chinese Journal of Reproductive Health
