Saki Forough, Hemmati Fariba, Haghighat Mahmoud
Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran.
Ann Saudi Med. 2011 Mar-Apr;31(2):140-4. doi: 10.4103/0256-4947.77498.
The cause of hyperbilirubinemia cannot be found in about 45% of cases of neonatal jaundice. Gilbert syndrome (GS) is the most common congenital disease associated with bilirubin metabolism in the liver. Since the screening value of genetic tests cannot be fully determined until accurate data on the prevalence and penetrance of the GS genotype are known, we sought to estimate whether the prevalence of GS is higher in the parents of neonates with severe unexplained indirect hyperbilirubinemia.
Case-control study of parents of neonates with severe unexplained indirect hyperbilirubinemia admitted to a neonatal ward.
We used the rifampin test (checked bilirubin before and 4 hours after administration of 600 mg rifampin) for diagnosis of GS in parents of 115 neonates with severe unexplained indirect hyperbilirubinemia. We compared the prevalence of GS in these parents with that of a control group of 115 couples referred for premarital counseling.
The 115 neonates were aged 5.2 (1.6) days (mean, standard deviation), all were breast-fed, and males constituted 56.5%. Mean total serum bilirubin (TSB) level was 20.96 (5.48) mg/dL. 14.8% were glucose 6 phosphate dehydrogenase (G6PD) deficiency was present in 14.8%, and 10.4% had A, B or O blood group (ABO) incompatibilities with their mothers. There was no difference in the prevalence of GS between parents of the group with hyperbilirubinemia (22.2%) and the control group (19.13%) (P=.42). Mean TSB in neonates with parents who had GS was more (about 3 mg/dL) than in neonates with normal parents (P=.004). Fathers had GS twice as often as the mothers among the parents of neonates with hyperbilirubinemia (P=.003), among the control group (P=.009) and among neonates (P=.014).
This study showed that GS cannot cause severe indirect hyperbilirubinemia by itself, but it may have a summative effect on rising bilirubin when combined with other factors, for example, G6PD. Our results showed that in GS, males are affected about twice as much as the females.
在约45%的新生儿黄疸病例中，无法找到高胆红素血症的病因。吉尔伯特综合征（GS）是最常见的与肝脏胆红素代谢相关的先天性疾病。由于在了解GS基因型的患病率和外显率的准确数据之前，基因检测的筛查价值无法完全确定，我们试图评估在患有严重不明原因间接高胆红素血症的新生儿父母中，GS的患病率是否更高。
对入住新生儿病房的患有严重不明原因间接高胆红素血症的新生儿父母进行病例对照研究。
我们采用利福平试验（在给予600mg利福平前及给药后4小时检查胆红素）对115例患有严重不明原因间接高胆红素血症的新生儿的父母进行GS诊断。我们将这些父母中GS的患病率与115对前来进行婚前咨询的对照组夫妇的患病率进行比较。
115例新生儿年龄为5.2（1.6）天（均值，标准差），均为母乳喂养，男性占56.5%。平均总血清胆红素（TSB）水平为20.96（5.48）mg/dL。14.8%存在葡萄糖6磷酸脱氢酶（G6PD）缺乏，10.4%与母亲存在A、B或O血型（ABO）不相容。高胆红素血症组父母中GS的患病率（22.2%）与对照组（19.13%）之间无差异（P = 0.42）。父母患有GS的新生儿的平均TSB比父母正常的新生儿高（约3mg/dL）（P = 0.004）。在患有高胆红素血症的新生儿父母中，父亲患GS的频率是母亲的两倍（P = 0.003），在对照组中（P = 0.009）以及在新生儿中（P = 0.014）也是如此。
本研究表明，GS本身不会导致严重的间接高胆红素血症，但与其他因素（如G6PD）联合时，可能对胆红素升高有累加作用。我们的结果表明，在GS中，男性受影响的程度约为女性的两倍。
