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首页> 外文期刊>Pediatrics: Official Publication of the American Academy of Pediatrics >Neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient heterozygotes.
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Neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient heterozygotes.

机译：葡萄糖-6-磷酸脱氢酶缺陷杂合子的新生儿高胆红素血症。

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摘要

OBJECTIVES: We assessed the incidence of hyperbilirubinemia, defined as serum total bilirubin >/=15 mg/dL (256 micromol/L), in a cohort of Sephardic Jewish female neonates at risk for glucose-6-phosphate dehydrogenase (G-6-PD) deficiency with especial emphasis on the heterozygotes. We studied the roles of hemolysis by blood carboxyhemoglobin (COHb) determinations and of the variant promoter of the gene for the bilirubin-conjugating enzyme uridine 5'-diphosphate glucuronosyltransferase 1 (UGT1A1) seen in Gilbert's syndrome in the pathogenesis of the hyperbilirubinemia. METHODS: Consecutively born, healthy, term, female neonates were screened for G-6-PD deficiency and observed clinically with serum bilirubin evaluations as indicated for hyperbilirubinemia. On day 3, blood was sampled for COHb, total hemoglobin (tHb), and a mandatory serum bilirubin determination. COHb, determined by gas chromatography, was expressed as percentage of tHb and corrected for inspired carbon monoxide (COHbc). DNA was analyzed for the G-6-PD Mediterranean563T mutation and for the variant UGT1A1 gene. RESULTS: The cohort included 54 G-6-PD-deficient heterozygotes, 19 deficient homozygotes, and 112 normal homozygotes. More heterozygotes (12/54, 22%; relative risk: 2.26; 95% CI: 1.07-4.80) and deficient homozygotes (5/19, 26.3%; relative risk: 2.68; 95% CI: 1.05-6.90) developed hyperbilirubinemia, than did normal homozygotes (11/112, 9.8%). Third-day serum bilirubin values that were obtained from 144 neonates were significantly higher in both heterozygotes (11.2 +/- 3. 7 mg/dL [192 +/- 64 micromol/L]) and G-6-PD-deficient homozygotes (12.0 +/- 3.0 mg/dL [206 +/- 52 micromol/L]) than in the G-6-PD normal homozygotes (9.4 +/- 3.4 mg/dL [160 +/- 58 micromol/L). In contrast, COHbc values were higher only in G-6-PD-deficient homozygotes (0.74% +/- 0.14%) and not in heterozygotes (0.69% +/- 0. 19%, not statistically significant), compared with control values (0. 63% +/- 0.19%). High COHbc values were not a prerequisite for the development of hyperbilirubinemia in any of the G-6-PD genotypes. A greater incidence of hyperbilirubinemia was found among the G-6-PD-deficient heterozygotes, who also had the variant UGT1A1 gene, in both heterozygous (6/20, 30%) and homozygous (4/8, 50%) forms, than was found in their counterparts with the normal UGT1A1 gene (2/26, 7.7%). This effect was not seen in the G-6-PD normal homozygote group. A color reduction screening test for G-6-PD deficiency identified only 20.4% (11/54) of the heterozygotes. CONCLUSIONS: We showed that G-6-PD-deficient heterozygotes, categorically defined by DNA analysis, are at increased risk for neonatal hyperbilirubinemia. The screening test that was used was unable to detect most heterozygotes. Increased bilirubin production was not crucial to the development of hyperbilirubinemia, but presence of the variant UGT1A1 gene did confer increased risk.
机译：目的：我们评估了一群存在葡萄糖-6-磷酸葡萄糖脱氢酶（G-6-高危）风险的Sephardic犹太女性新生儿中高胆红素血症的发生率，高血红蛋白血症的定义为血清总胆红素> / = 15 mg / dL（256 micromol / L）。 PD）缺乏症，特别强调杂合子。我们研究了血液羧基血红蛋白（COHb）测定对溶血的作用以及在吉尔伯特综合征中发现的胆红素结合酶尿苷5'-二磷酸葡萄糖醛酸转移酶1（UGT1A1）基因的变体启动子在高胆红素血症的发病机理中的作用。方法：对连续出生，健康，足月的女婴进行G-6-PD缺乏症筛查，并通过血清胆红素评估进行临床观察，如高胆红素血症。在第3天，采集血液中的COHb，总血红蛋白（tHb）和强制性血清胆红素测定。通过气相色谱法测定的COHb表示为tHb的百分比，并针对吸入一氧化碳（COHbc）进行了校正。分析了DNA的G-6-PD Mediterranean563T突变和UGT1A1变异基因。结果：该队列包括54个G-6-PD缺陷纯合子，19个缺陷纯合子和112个正常纯合子。更多的杂合子（12/54，22％;相对危险度：2.26; 95％CI：1.07-4.80）和缺陷纯合子（5/19，26.3％;相对危险度：2.68; 95％CI：1.05-6.90）发生高胆红素血症，比正常纯合子要高（11/112，9.8％）。从144名新生儿获得的第三天血清胆红素值在杂合子（11.2 +/- 3. 7 mg / dL [192 +/- 64 micromol / L]）和G-6-PD缺乏纯合子（比G-6-PD正常纯合子（9.4 +/- 3.4 mg / dL [160 +/- 58 micromol / L]）高12.0 +/- 3.0 mg / dL [206 +/- 52 micromol / L]。相比之下，与对照值相比，仅在G-6-PD缺失的纯合子（0.74％+/- 0.14％）中而不是杂合子（0.69％+/- 0. 19％，无统计学意义），COHbc值更高。 （0. 63％+/- 0.19％）。在任何G-6-PD基因型中，高COHbc值都不是发生高胆红素血症的先决条件。在缺乏G-6-PD的杂合子中也发现了高胆红素血症，杂合子（6/20，30％）和纯合子（4/8，50％）都具有UGT1A1基因变异，在其与正常UGT1A1基因相对应的基因中发现（2/26，7.7％）。在G-6-PD正常纯合子组中未观察到这种效果。针对G-6-PD缺乏症的颜色减少筛选测试仅发现了20.4％（11/54）的杂合子。结论：我们显示，DNA分析明确定义的G-6-PD缺陷型杂合子患新生儿高胆红素血症的风险增加。使用的筛选测试无法检测到大多数杂合子。胆红素产生的增加对高胆红素血症的发生不是至关重要的，但是存在变体UGT1A1基因确实增加了风险。

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