Cord blood G-6-PD activity by quantitative enzyme assay and fluorescent spot test in Chinese neonates

Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is a common X-linked recessive disorder among the Chinese population. Neonatal screening for this condition is important and with necessary precaution, enzyme deficient infants are less likely to develop severe haemolysis and subsequent kernicterus. Screening of G-6-PD deficiency by fluorescent spot test on cord blood samples of 1228 Chinese neonates revealed an incidence of 4.4% in males and 0.35% in females. Simultaneous direct enzyme assay confirmed the sensitivity and specificity of the spot test in the identification of male hemizygotes and female homozygotes. However, the spot test was unsatisfactory in detecting heterozygotes. Even quantitative enzyme assay could detect only 70% of the partially deficient subjects.     

Leucocyte glucose-6-phosphate dehydrogenase (G-6-PD) activity in G-6-PD deficient subjects

The activity of glucose-6-phosphate dehydrogenase (G-6-PD) in leucocytes was studied in the following groups of Greek people.Group 1: 43 male children and 16 male students with mean values of enzyme activity of 27.7±16.6 units and 24.6±5.6 units, respectively.Group 2: 15 G-6-PD deficient male children who had never experienced an acute haemolytic episode with a mean value of 10.8±4.6 units.Group 3: 19 G-6-PD deficient male children during favism and 3 months after the haemolytic crisis with mean values of 8±4 units and 9.2±1.9 units, respectively.Group 4: 19 mothers of children from group 3 who by definition were carriers of G-6-PD deficiency had a mean value of 18.2±8.2 units.The difference between means for group 1 and groups 2, 3 and 4 is highly significant (P<0.001).Therefore the enzymatic defect in Greek people is not limited to the erythrocytes but can be also demonstrated in leucocytes.     

β-Thalassemia trait and hyperbilirubinemia in G-6-PD deficient newborn infants

Hb A₂ was determined in 50 subjects with erythrocyte G-6-PD deficiency who presented with hyperbilirubinemia in the neonatal period and in 100 non-hyperbilirubinemic G-6-PD deficient newborn infants, at the age of 12 months or more. Six subjects in the first group and 13 in the second were found to be carriers of the -thalassemia trait. Statistical analysis of the data did not show any significant difference between the two groups. It seems that the -thalassemia trait does not provide any protection against neonatal hyperbilirubinemia associated with G-6-PD deficiency.     

婴幼儿红细胞葡萄糖-6-磷酸脱氢酶缺陷症:附290例临床分析

为探讨广东地区婴幼儿红细胞葡萄糖－6－磷酸脱氢酶（G6PD）缺陷引起急性溶血性贫血的主要发病因素，以及与发病相关的G6PD基因突变类，分析我院从1991年1月－1999年1月收治的G6PD缺陷引起隐性溶血性贫血290例患儿临床资料，并对其中87例采用滤纸干血斑DNA直接扩增法和限制性内切酶分析技术进行G6PD基因型检测，结果发现：该病在广东地发病高峰年龄以1个月－3岁为主，发病高峰季节为4月－7月，与本地区婴幼儿各种感染发生的高峰季节相接近。同时发现87例患儿中属于cDNA1376（G－T）及cDNA1388（G－A）的基因型分别占34．5％和32．2％。提示感染可能是本地区婴幼儿3岁内和每年4月－7月发生急性溶血发病高峰的主要因素：cDNA1376（G－7）及cDNA1388（G－A）两项基因型是广东地区G6PD发病的主要基因类型。     

(TA)n UGT 1A1 promoter polymorphism: a crucial factor in the pathophysiology of jaundice in G-6-PD deficient neonates

Increased heme catabolism has been reported in glucose-6-phosphate dehydrogenase (G-6-PD)-normal neonates who were also homozygous for (TA)7/(TA)7 (UGT1A1*28) uridine diphosphoglucuronate-glucuronosyltransferase 1A1 (UGT) promoter polymorphism (Gilbert syndrome). As G-6-PD deficiency is associated with increased hemolysis, we hypothesized that in G-6-PD-deficient neonates who also have the (TA)7/(TA)7 UGT promoter genotype, steady-state hemolysis would be even further increased. Male G-6-PD-deficient neonates were sampled for plasma total bilirubin (PTB), blood carboxyhemoglobin corrected for inhaled carbon monoxide in ambient air (COHbc) (an index of heme catabolism), and UGT (TA)n promoter genotype determination and compared with previously published G-6-PD-normal neonates. Although COHbc values were higher in the G-6-PD-deficient than in the G-6-PD-normal cohorts (0.97 +/- 0.32% of total Hb (tHb) versus 0.76 +/- 0.19% of tHb, p < 0.001), PTB values were similar (9.2 +/- 3.4 mg/dL versus 8.9 +/- 3.0 mg/dL, respectively, p = 0.3). Within the G-6-PD-deficient group, although COHbc values were alike between the three UGT promoter genotypes, PTB was higher in the (TA)7/(TA)7 homozygotes (11.1 +/- 4.0 mg/dL) compared with (TA)6/(TA)7 heterozygotes (9.1 +/- 3.2 mg/dL, p = 0.03) and wild-type (TA)6/(TA)6 homozygotes (8.8 +/- 3.4 mg/dL, p = 0.02). In the steady state, similar rates of hemolysis, but increased PTB in the G-6-PD- deficient, (TA)7/(TA)7 homozygotes, imply that (TA)7/(TA)7, homozygosity is central to increased PTB.     

不同G-6-PD活性新生儿光疗致溶血机制及其预防

目的探讨不同G6PD活性新生儿光疗溶血机制及预防。方法将G6PD正常与缺陷光疗患儿随机分为维生素E干预组和对照组,测定比较超氧化物歧化酶(SOD)、丙二醛(MDA)、活性氧(ROS)、总胆红素(TB)、血红蛋白(Hb)及光疗指数。结果光疗前G6PD缺陷组比正常组SOD和Hb低,ROS高;光疗中G6PD缺陷干预组比正常干预组SOD高,MDA低,光疗指数小,G6PD缺陷对照组比正常对照组ROS、MDA高,光疗指数大(各组比较均P<0.01或P<0.05)。光疗后G6PD缺陷对照组Hb下降,并比干预组低,G6PD正常两组Hb均下降,干预组比对照组高(各组比较均P<0.01或P<0.05)。结论光疗可致抗氧化能力下降,脂质过氧化损伤致G6PD缺陷光疗者溶血更突出,维生素E干预更有效。     

不同G-6-PD活性新生儿光疗致溶血机制及其预防

目的 探讨不同G-6-PD活性新生儿光疗溶血机制及预防。方法将G-6-PD正常与缺陷光疗患儿随机分为维生素E干预组和对照组，测定比较超氧化物歧化酶（SOD）、丙二醛（MDA）、活性氧（ROS）、总胆红素（TB）、血红蛋白（Hb）及光疗指数。结果光疗前G-6-PD缺陷组比正常组SOD和Hb低，ROS高；光疗中G-6-PD缺陷干预组比正常干预组SOD高，MDA低，光疗指数小．G-6-PD缺陷对照组比正常对照组ROS、MDA高，光疗指数大（各组比较均P〈0．01或P〈0．05）。光疗后G-6-PD缺陷对照组Hb下降，并比干预组低，G-6-PD正常两组Hb均下降，干预组比对照组高（各组比较均P〈0．01或P〈0．05）。结论光疗可致抗氧化能力下降，脂质过氧化损伤致G-6-PD缺陷光疗者溶血更突出，维生素E干预更有效。     

Cord blood bilirubin level in relation to bilirubin UDP-glucuronosyltransferase gene missense allele in Chinese neonates

AIM: To investigate bilirubin UDP-glucuronosyltransferase (UGT1A1) gene allele in healthy Chinese neonates, their cord bilirubin level and the subsequent hyperbilirubinemia to determine relationships among them. METHODS: Cord blood of 48 neonates was obtained to determine the exon 1 of UGT1A1 gene, total serum bilirubin, albumin, glutamic-pyruvic transaminase (GPT), glutamic-oxalacetic transaminase (GOT) and haemoglobin (Hb) concentration. Neonatal jaundice was assessed by measurement of transcutaneous bilirubin (TCB) and serum bilirubin. Neonates were divided into two groups according to mutant or normal allele to compare the variables. RESULTS: Nineteen infants had the nucleotide 211 G-->A allele, 3 had the heterozygous variation (686C-->A, 845 A-->T, 231G-->A). In the 211 A allele group, cord bilirubin was significantly higher than in the 211 G allele group (p = 0.034), but there were no differences in albumin (p = 0.678), GPT (p = 0.460), GOT (p = 0.440) and Hb (p = 0.886). The TCB (at 48, 96 h), the frequency of the hyperbilirubinemia and prolonged jaundice were also significantly higher in the 211 A allele group. CONCLUSIONS: The UGT1A1 gene codon G71R allele is a risk factor for neonatal hyperbilirubinemia in the Chinese population. Its effect on bilirubin metabolism may present early on, as well as late in foetal life.     

广西恭城县瑶族和汉族居民G-6-PD缺乏症发病率及基因频率的调查

目的研究广西恭城县瑶族和汉族居民的G-6-PD缺乏症发病率及基因频率。方法使用G-6-PD试纸法初筛，四氮唑蓝定量法测定确认的方法调查对2050名（男1126，女1124）瑶族和874名（男481，女393）汉族初中学生进行G-6-PD缺乏症的调查。结果瑶族男缺乏率5．75％（显著缺乏4．87％，中度缺乏0．97％），瑶族女性缺乏率1．95％（显著0．59％，中度1．36％）。瑶族男女合并总缺乏率为3．85％；瑶族男性基因频率为：0．057，瑶族女性杂合子的估计值为10．84％：汉族男性缺乏率7.06％（显著缺乏6．03％，中度缺乏1．04％），汉族女性缺乏率3．56％（显著0．76％，中度2.80％），汉族男女合并总缺乏率为5．49％；汉族男性基因频率为0．0706，汉族女性杂合子的估计值为13．12％；全县瑶族和汉族合并缺乏率为4．34％。结论恭城县G-6-PD缺乏发病率，瑶族比汉族的稍低，但民族间的差异比地域间的差异相对要小。     

广西恭城县瑶族和汉族居民G-6-PD缺乏症发病率及基因频率的调查

目的研究广西恭城县瑶族和汉族居民的G-6-PD缺乏症发病率及基因频率。方法使用G-6-PD试纸法初筛,四氮唑蓝定量法测定确认的方法调查对2050名(男1126,女1124)瑶族和874名(男481,女393)汉族初中学生进行G-6-PD缺乏症的调查。结果瑶族男缺乏率5·75%(显著缺乏4·87%,中度缺乏0·97%),瑶族女性缺乏率1.95%(显著0·59%,中度1·36%),瑶族男女合并总缺乏率为3·85%;瑶族男性基因频率为:0·057,瑶族女性杂合子的估计值为10·84%:汉族男性缺乏率7·06%(显著缺乏6·03%,中度缺乏1·04%),汉族女性缺乏率3·56%(显著0·76%,中度2·80%),汉族男女合并总缺乏率为5·49%;汉族男性基因频率为0·0706,汉族女性杂合子的估计值为13·12%;全县瑶族和汉族合并缺乏率为4·34%。结论恭城县G-6-PD缺乏发病率,瑶族比汉族的稍低,但民族间的差异比地域间的差异相对要小。     

Cord blood cardiac troponin T and troponin I levels in multiple-gestation neonates

The increased mortality and morbidity rates in multiple-gestation neonates are not completely understood. Troponin measurements have a role in situations where the evaluation of the cardiac damage is difficult, such as in cases of unexplained intrauterine fetal growth restriction or death. These conditions, along with perinatal hypoxic risk and in utero ischemic damage, are frequently found in multiple gestations. In this context, a myocardial damage could be expected more frequently in multiple than in singleton births. We hypothesized that cord blood cardiac troponin T and troponin I, markers of myocardial damage, could be different between singleton and multiple pregnancies and, among twins, between the first- and the second-born twin. Troponins T and I and creatine kinase MB concentrations were not increased in twins at birth and were not different between the first- and the second-born twin. These data suggest that myocardial damage, evaluated by cardiac troponin T, troponin I, and creatine kinase MB measurements, does not seem to be a relevant problem in multiple-gestation neonates.     

FQ-PCR检测法诊断先天性巨细胞病毒感染的卫生经济学评价

目的：探讨采用荧光定量聚合酶链式反应(FQ-PCR)检测法诊断新生儿先天性巨细胞病毒（CMV）感染的经济学成本。方法对610例日龄在14 d以内的新生儿采用酶联免疫吸附法检测血清CMV抗体,对于CMV-IgM或IgG阳性新生儿采用FQ-PCR检测其尿液CMV含量,并分析确诊1例CMV感染病例的平均费用。结果CMV-IgM阳性新生儿的FQ-PCR阳性率为42.9%(15/35);单纯IgG阳性者为2.9%(16/547)。CMV-IgM阳性组CMV DNA对数值的均值为5.79±1.24,明显高于单纯CMV-IgG阳性组（4.11±0.87）（P<0.01）。CMV-IgM 阳性病例确诊先天性CMV感染的平均费用为256元/例,单纯IgG阳性者为3 760元/例。结论(1)CMV-IgM阳性新生儿CMV DNA含量高于单纯CMV-IgG阳性者;(2)FQ-PCR确诊CMV-IgG阳性的新生儿为先天性CMV感染的成本-效益比远高于CMV-IgM阳性的患儿,对于CMV-IgG阳性新生儿,该法不适合于大规模流行病学诊断性研究。［中国当代儿科杂志,2010,12（10）：796-798］     

新生儿HIE脐血IL-6、IL-8与TNF-α变化及临床意义探讨

为探讨新生儿缺氧缺血性脑病 ( HIE)脐血 IL - 6、IL - 8与 TNF-α的变化及临床意义 ,应用放射免疫法检测了 4 0例 HIE患儿 IL- 6、IL- 8与 TNF- α水平 ,并与 4 0例正常新生儿比较。结果显示与正常新生儿比较 ,HIE患儿与正常对照儿相比脐血IL - 6水平分别为 ( 61.0 4± 2 3 .0 6)对 ( 91.83± 3 7.5 4 ) ng/L ( P<0 .0 1) ,IL - 8分别为( 0 .3 4± 0 .0 9)对 ( 0 .2 6± 0 .0 7) μg/L( P<0 .0 1) ,TNF- α分别为 ( 1.0 3± 0 .3 0 )对 ( 0 .83± 0 .3 1) μg/L( P<0 .0 1) ;而且病情越重改变越明显。因此 ,我们认为 ,围产期窒息与HIE患儿脐血 IL - 6水平减低、IL - 8与 TNF-α水平升高有关 ;它们可能参与了新生儿缺氧缺血性脑损伤的某些发病过程     

Postnatal changes in blood spot 17-hydroxyprogesterone level in healthy preterm and full-term neonates

Blood spot 17OH-P concentrations were determined in 14 healthy premature (mean birthweight 1439 g, mean gestational age 30 weeks) and full-term newborn infants (mean birthweight 3532 g, mean gestational age 39.2 weeks) during the first five weeks of life to provide reference data for infants with various gestational and postnatal ages. It was demonstrated that with advancing age there was an abrupt fall in 17OH-P from 296.2 +/- 84.1 nmol/l on the first day to 101.2 +/- 19.5 nmol/l on the 7th day (p less than 0.001) and 75.7 +/- 8.7 nmol/l (p less than 0.05) on the 14th day in premature infants. In full-term neonates its initial value is much lower (90.1 +/- 12.5 nmol/l) and its fall during the first week is much less pronounced (51.5 +/- 6.5 nmol/l, p less than 0.01). Comparing the postnatal changes in 17OH-P in the two groups it proved to be significantly higher in premature than in full-term infants at all ages except for the 4th week. When blood spot 17OH-P values were studied as a function of gestational age at the age of 5 days a significant inverse relationship was found between the two parameters. It is assumed that in addition to placental 17OH-P production and perinatal stress, renal salt wasting may also account for the long lasting elevation of 17OH-P plasma level seen in premature infants.     

Glucose-6-phosphate dehydrogenase activity in male premature and term neonates

BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) activity is higher in term neonates than in adults. Some studies have suggested that activity may be even higher in preterm infants. OBJECTIVES: To determine if G6PD activity is higher in preterm than term neonates, and whether higher activity would interfere with diagnosis of G6PD deficiency in premature infants. METHODS: G6PD activity was determined in the first 48 hours after delivery in male premature, term, and near term infants. G6PD deficient neonates were separated, and the remaining premature infants compared with healthy, male, G6PD normal, near term and term neonates. RESULTS: Ninety four premature infants (mean (SD) gestational age 31.9 (3.8) weeks (range 23-36)) were studied. In four, G6PD activity was 0.8-1.8 U/g haemoglobin (Hb), which is clearly in the deficient range with no overlap into the normal range. G6PD activity in the remaining premature infants was significantly higher than in 24 near term and term neonates (gestational age > or = 37 weeks) (14.2 (4.6) v 12.0 (3.8) U/g Hb). Further analysis showed that significance was limited to those born between 29 and 32 weeks gestation, in which group G6PD activity was significantly higher than in those born before 29 weeks gestation, at 33-36 weeks gestation, and > or = 37 weeks gestation. CONCLUSIONS: G6PD activity is higher in premature infants born between 29 and 32 weeks gestation than in term neonates. This did not interfere with diagnosis of G6PD deficiency.