Gilbert syndrome accelerates development of neonatal jaundice
Gilbert syndrome accelerates development of neonatal jaundice
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DOI：
10.1016/s0022-3476(98)70356-7
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发表时间：
1998-04-01
影响因子：
5.1
通讯作者：
Gourley, GR
中科院分区：
文献类型：
--
作者：
Bancroft, JD;Kreamer, B;Gourley, GR
目的：吉尔伯特综合征（Gilbert Syndrome， GS）通常在青春期后诊断，伴有非共轭性高胆红素血症和胆红素udp -葡萄糖醛酸糖基转移酶活性降低。GS在新生儿黄疸中的作用尚不清楚。这项研究验证了最近发现的一个假设；GS（编码胆红素udp -糖醛酸糖基转移酶的基因UGT1A启动子中的一个TA插入）与新生儿黄疸有关。研究设计：在151名健康婴儿出生后不久和出生后第一周每天测量经皮黄疸指数。从血液或口腔刷毛中分离基因组DNA，通过聚合酶链反应扩增UGT1A启动子，得到90个（A[TA](6)TAA，正常）或92个（A[TA](7)TAA， GS）碱基对产物。统计分析使用了Kruskal-Wallis、Wilcoxon和Fisher的精确检验。结果：19例（13%）受试者为与GS相关的A(TA)(7)TAA多态性纯合子。A(TA)(7)TAA纯合子与A(TA)(6)TAA纯合子相比，在出生后2天黄疸指数的增加幅度更大。结论：虽然黄疸峰值水平在各组之间没有差异，但具有GS分子标记的新生儿在出生后2天内新生儿黄疸的增加速度加快。
Objective: Gilbert Syndrome (GS), associated with unconjugated hyperbilirubinemia and decreased bilirubin UDP-glucuronosyltransferase activity, is usually diagnosed after puberty. The role of GS in neonatal jaundice is unknown. This study tested the hypothesis that a recently identified;ed molecular marker for GS (a TA insertion in the promoter of UGT1A, the gene encoding bilirubin UDP-glucuronosyltransferase) is associated with neonatal jaundice.Study design: Transcutaneous jaundice index was measured shortly after birth and daily for the first week of life in 151 healthy infants. Genomic DNA was isolated from blood or buccal brushings, and the UGT1A promoter was amplified by the polymerase chain reaction to yield 90 (A[TA](6)TAA, normal) or 92 (A[TA](7)TAA, GS) base pair products. Statistical analysis used Kruskal-Wallis, Wilcoxon, and Fisher's exact tests.Results: Nineteen (13%) subjects were homozygous for the A(TA)(7)TAA polymorphism associated with GS. The A(TA)(7)TAA homozygotes had a greater increase in jaundice index during the first 2 days of life than heterozygotes or A(TA)(6)TAA homozygotes.Conclusion: Although peak jaundice levels did not differ among groups, newborn infants with the molecular marker for GS have an accelerated increase in neonatal jaundice during the first 2 days of life.