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ABO 血型不合溶血病高胆红素血症新生儿 Gilbert 综合征相关 UGT1A1 多态性研究。

Study of Gilbert's Syndrome-Associated UGT1A1 Polymorphism in Jaundiced Neonates of ABO Incompatibility Hemolysis Disease.

机构信息

Department of Neonatology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.

出版信息

Am J Perinatol. 2020 May;37(6):652-658. doi: 10.1055/s-0039-1688816. Epub 2019 May 14.

Abstract

OBJECTIVE

This study aimed to assess the probable relationship between icter in neonates with ABO incompatibility hemolysis and gene polymorphism.

STUDY DESIGN

There were 65 ABO hemolytic disease of the newborn (HDN) neonates of full term in the study group and 82 non-ABO HDN neonates of full term in the compared group. We tested the gene mutation of neonates of ABO HDN and non-ABO HDN. We compared the incidence of hyperbilirubinemia between neonates with and without UGT1A1 mutations in the ABO HDN and non-ABO HDN, to determine the relationship between icter in neonates with ABO HDN and gene polymorphism. SPSS 13.0 were used to analyze those two groups' data.

RESULTS

There was statistically significant difference of the serum bilirubin level between the Gly71Arg homozygous and no mutation group in the ABO HDN patients ( < 0.05). When hyperbilirubinemia was defined as serum bilirubin concentration >342 μmol/L, the incidence of hyperbilirubinemia between patients of UGT1A1 and non-UGT1A1 mutations in the ABO HDN group was significantly different ( < 0.05). But in the non-ABO HDN group, no significant difference was found.

CONCLUSION

Individuals with Gly71Arg homozygous contributed to their hyperbilirubinemia in ABO HDN patients.

摘要

目的

本研究旨在评估 ABO 血型不合溶血病新生儿黄疸与基因多态性之间的可能关系。

研究设计

研究组为 65 例足月 ABO 溶血病新生儿,对照组为 82 例足月非 ABO 溶血病新生儿。我们检测了 ABO 溶血病和非 ABO 溶血病新生儿的基因突变。我们比较了 ABO 溶血病和非 ABO 溶血病中 UGT1A1 突变的新生儿高胆红素血症的发生率,以确定 ABO 溶血病新生儿黄疸与基因多态性之间的关系。采用 SPSS 13.0 分析两组数据。

结果

在 ABO 溶血病患者中,Gly71Arg 纯合子与无突变组的血清胆红素水平有统计学差异( < 0.05)。当高胆红素血症定义为血清胆红素浓度>342 μmol/L 时,ABO 溶血病组 UGT1A1 和非 UGT1A1 突变患者的高胆红素血症发生率有显著差异( < 0.05)。但在非 ABO 溶血病组中,未发现显著差异。

结论

Gly71Arg 纯合子个体易导致 ABO 溶血病新生儿高胆红素血症。

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