Department of Population Medicine, Faculty of Medicine and Health Sciences, Universiti Tunku Abdul Rahman, Bandar Sungai Long, Selangor, Malaysia.
Department of Pre-Clinical Science, Faculty of Medicine and Health Sciences, Universiti Tunku Abdul Rahman, Bandar Sungai Long, Selangor, Malaysia.
J Trop Pediatr. 2020 Dec 1;66(6):569-582. doi: 10.1093/tropej/fmaa016.
This study aimed to determine whether maternal-fetal blood group isoimmunization, breastfeeding, birth trauma, age when first total serum bilirubin (TSB) was measured, age of admission, and genetic predispositions to hemolysis [due to genetic variants of glucose-6-phosphate dehydrogenase (G6PD) enzyme], and reduced hepatic uptake and/or conjugation of serum bilirubin [due to genetic variants of solute carrier organic anion transporter protein family member 1B1 (SLCO1B1) and uridine diphosphate glucuronosyltransferase family 1 member A1 (UGT1A1)] were significant risk factors associated with severe neonatal hyperbilirubinemia (SNH, TSB ≥ 342µmol/l) in jaundiced term neonates admitted for phototherapy.
The inclusion criteria were normal term neonates (gestation ≥ 37 weeks). Parents/care-givers were interviewed to obtain data on demography, clinical problems, feeding practice and age when first TSB was measured. Polymerase chain reaction-restriction fragment length polymorphism method was used to detect common G6PD, UGT1A1 and SLCO1B1 variants on each neonate's dry blood specimens.
Of 1121 jaundiced neonates recruited, 232 had SNH. Logistic regression analysis showed that age (in days) when first TSB was measured [adjusted odds ratio (aOR) = 1.395; 95% confidence interval (CI) 1.094-1.779], age (in days) of admission (aOR = 1.127; 95% CI 1.007-1.260) and genetic mutant UGT1A1 promoter A(TA)7TAA (aOR = 4.900; 95% CI 3.103-7.739), UGT1A1 c.686C>A (aOR = 6.095; 95% CI 1.549-23.985), SLCO1B1 c.388G>A (aOR = 1.807; 95% CI 1.242-2.629) and G6PD variants and/or abnormal G6PD screening test (aOR = 2.077; 95% CI 1.025-4.209) were significantly associated with SNH.
Genetic predisposition, and delayed measuring first TSB and commencing phototherapy increased risk of SNH.
本研究旨在确定母婴血型不合、母乳喂养、出生创伤、首次总血清胆红素（TSB）测量的年龄、入院年龄以及溶血性遗传易感性[葡萄糖-6-磷酸脱氢酶（G6PD）酶的遗传变异]和血清胆红素的肝摄取和/或结合减少[由于溶质载体有机阴离子转运蛋白家族成员 1B1（SLCO1B1）和尿苷二磷酸葡萄糖醛酸基转移酶家族 1 成员 A1（UGT1A1）的遗传变异]是否与足月新生儿黄疸（胎龄≥37 周）接受光疗的严重新生儿高胆红素血症（SNH，TSB≥342μmol/l）有关。
纳入标准为正常足月新生儿。对父母/护理人员进行访谈，以获取人口统计学、临床问题、喂养实践和首次 TSB 测量年龄的数据。聚合酶链反应-限制性片段长度多态性方法用于检测每个新生儿干血标本中常见的 G6PD、UGT1A1 和 SLCO1B1 变体。
在 1121 名患有黄疸的新生儿中，有 232 名患有 SNH。Logistic 回归分析显示，首次 TSB 测量的年龄（天）[校正优势比（aOR）=1.395；95%置信区间（CI）1.094-1.779]、入院年龄（天）（aOR=1.127；95%CI 1.007-1.260）和遗传突变 UGT1A1 启动子 A（TA）7TAA（aOR=4.900；95%CI 3.103-7.739）、UGT1A1 c.686C>A（aOR=6.095；95%CI 1.549-23.985）、SLCO1B1 c.388G>A（aOR=1.807；95%CI 1.242-2.629）和 G6PD 变体和/或异常 G6PD 筛查试验（aOR=2.077；95%CI 1.025-4.209）与 SNH 显著相关。
遗传易感性以及首次 TSB 测量和开始光疗的延迟增加了 SNH 的风险。
