中国妇幼健康研究2018，Vol.29Issue(3)：265-268,4.DOI:10.3969/j.issn.1673-5293.2018.03.005
早期新生儿不明原因严重高胆红素血症基因筛选
Gene screening associated with severe hyperbilirubinemia at early stage with unexplained causes in neonates
魏萌 1李菁 1杨丽菲 1胡瑞1
作者信息
- 1. 上海儿童医学中心新生儿科,上海200217
- 折叠
摘要
Abstract
Objective To investigate the influencing factors of genes hyperbilirubinemia at early stage in neonates.Methods From 2015 to 2016 59 cases of severe hyperbilirubinemia admitted in department of neonatology in Shanghai Children's Medical Center were analyzed.They were divided into refractory group and non-refractory group,and non randomized controlled trial was used to analyze the influencing factors of neonatal hyperbilirubinemia at early stage.Results There was no significant difference in general information between refractory group and non-refractory group(both P > 0.05).In refractory group there were 5 cases of UGT1A1gene G71R homozygous mutation and 26 cases of G71R heterozyous mutation with mutation frequency of 65.957%(31/47).In non-refractory group there were 2 cases of UGT1A1gene G71R homozygous mutation and 6 cases of G71R heterozyous mutation with mutation frequency of 66.667%(8/12).It suggested that G71R mutation was the majority in UGT1 gene in cases of hyperbilirubinemia.UGT1 Gly71Ary mutation was the most common type,and there was no significant difference between two groups(P>0.05).This study found 2 cases of new gene mutations,c.536T > A and p.Leu179Gl heterozygous mutations.No obvious differences were found in type of gene mutation and general information between two groups(P>0.05).Jaundice value of cases with heterozygous mutation at discharge was lower than that with homozygous mutation,and the difference was statistically significant(F= 3.442,P< 0.05).Conclusion UGT1 Gly71Ary mutation is the most common gene mutation type for cases with severe hyperbilirubinemia at early stage in Shanghai Children's Medical Center.Children with refractory hyperbilirubinemia and non-refractory hyperbilirubinemia are not statistically different.关键词
早期/不明原因/高胆红素血症/基因/新生儿Key words
early stage/unexplained causes/hyperbilirubinemia/gene/neonate分类
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魏萌,李菁,杨丽菲,胡瑞..早期新生儿不明原因严重高胆红素血症基因筛选[J].中国妇幼健康研究,2018,29(3):265-268,4.
