目的 探讨早期新生儿高胆红素血症基因的影响因素.方法 对上海儿童医学中心新生儿科2015年至2016年收治的严重高胆红素血症59例患儿进行分析,将其分成难治组与非难治组,并采用非随机对照试验方法,分析早期患儿高胆红素血症基因的影响因素.结果 难治组与非难治组患儿一般资料对比未发现明显差异(均 P>0.05).难治组中检测到 UGT1A1基因G71R纯合突变5例,G71R杂合突变26例,突变频率为65.957%(31/47);非难治组中检测到UGT1A1基因G71R纯合突变2例,G71R杂合突变6例,突变频率为66.667%(8/12),提示我国高胆红素血症患儿UGT1基因中仍以G71R突变为主.高胆红素血症最常见的基因突变类型为UGT1 Gly71Ary突变,两组间未发现明显统计学差异(P>0.05).研究中发现2例新的基因突变位点,c.536T>A,p.Leu179Gl杂合突变.难治组与非难治组基因突变类型及一般情况比较未发现显著差异(P>0.05);高胆红素血症杂合基因突变患儿出院黄疸值小于纯合突变患儿,存在统计学差异(F=3.442,P<0.05).结论 上海儿童医学中心早期严重高胆红素血症患儿最常见基因突变类型为UGT1 Gly71Ary突变,难治性高胆红素血症患儿与非难治性高胆红素血症患儿未发现明显统计学差异.%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.
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