共查询到20条相似文献,搜索用时 15 毫秒
1.
40 full-term newborn infants with erythrocyte glucose-6-phosphate dehydrogenase (G-6-PD) deficiency were used for a study concerning the effectiveness of agar per os in preventing severe hyperbilirubinemia. 20 randomly selected neonates were given agar (1 g/kg/day) orally in 4 daily doses from their 1st to their 5th day of life. 20 infants were not treated and served as controls. Three exchange transfusions were performed in the experimental as well as in the control group. According to these results, agar does not seem to be effective in preventing severe hyperbilirubinemia, which frequently occurs in newborn infants with erythrocyte G-6-PD deficiency. 相似文献
2.
Salicylamide glucuronide formation has been studied in 23 newborn babies with erythrocyte G-6-PD deficiency and in 15 normal newborns on the first day of life. Glucuronide formation was significantly lower (p less than 0.001) in the former in comparison with the controls. In the newborns with G-6-PD deficiency who subsequently became hyperbilirubinemic an even lower mean glucuronide formation was observed (p less than 0.01) in respect to the non-jaundiced G-6-PD-deficient newborns. 相似文献
3.
Katar S 《Journal of pediatric hematology/oncology》2007,29(5):284-286
OBJECTIVE: We aimed to investigate the rate of kernicterus, and physical and laboratory examination findings in hyperbilirubinemic infants with glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. MATERIALS AND METHODS: This study was carried out in the Dicle University Hospital Neonatal Intensive Care Unit between June 2005 and June 2006. Out of 56 male neonates who needed an exchange transfusion due to hyperbilirubinemia, 10 with G-6-PD deficiency were included in the study. Maternal age, gestational age, route of delivery, birth weight, age at the time of admission, and treatment and outcome were recorded. Laboratory investigations included determination of direct and indirect serum bilirubin concentrations, blood group typing, direct Coomb test, complete blood count, blood smear, thyroid-stimulating hormone, T4, C-reactive protein, urine analysis, and G-6-PD level. RESULTS: Out of 56 male neonates requiring exchange transfusion, 10 had G-6-PD deficiency (18%). In G-6-PD deficient neonates, other factors known to cause hyperbilirubinemia were excluded. The mean gestational age and the mean maternal age was 38.2+/-1.0 weeks and 31.3+/-5.9 years, respectively. The mean bilirubin level was 42.1+/-13.7 mg/dL. Four patients required a second exchange transfusions, and only 1 transfusion was sufficient for the remaining patients. Five patients (55%) developed kernicterus. CONCLUSIONS: Early detection of G-6-PD deficiency in the affected newborns may be important for reducing the risk of severe hyperbilirubinemia, kernicterus, and the need for exchange transfusion. 相似文献
4.
Tullio Meloni Sergio Erre Domenico Gallisai Stefano Cutillo 《European journal of pediatrics》1980,134(2):119-120
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. 相似文献
5.
Objective : This study was carried out to detect the incidence of erythrocytic Glucose-6-Phosphate dehydrogenase (G-6-PD) deficiency,
to compare the incidence of hyperbilirubinernia in G-6-PD deficient neonates as compared to G-6-PD normal neonates and to
asses the usefulness of neonatal screening for G-6-PD deficiency.Method : In a retrospective hospital based study 2,479 male and female neonates consecutively born at Indraprastha Apollo hospital
between July 1998 to June 2003 who were screened for G-6-PD levels were evaluated for the incidence of G-6-PD deficiency.Results : Incidence of G-6-PD deficiency was found to be 2.0%. Incidence in males was 283% and femle was 1.05%. The incidence of
hyperbilirubinemia was found to be 32% in G-6-PD deficient neonates which was significantly higher than the incidence of hyperbilirubinemia
in neonates with normal G-6-PD, which was 12.3% (P<0.001).Conclusion : Our data suggests that neonatal screening for G-6-PD deficiency is a useful test for preventing and early treatment of
complications associated with it. 相似文献
6.
Kaplan M Herschel M Hammerman C Hoyer JD Heller GZ Stevenson DK 《The Journal of pediatrics》2006,149(1):83-88
OBJECTIVE: To perform risk factor analysis for the prediction of hyperbilirubinemia in an African American male neonatal cohort. STUDY DESIGN: A database of 500 previously published term and near-term African American male neonates was further analyzed to determine the role of risk factors for hyperbilirubinemia. Factors studied included birth weight >/=4.0 kg, gestational age =37 weeks, breast-feeding, glucose-6-phosphate dehydrogenase (G-6-PD) deficiency, and predischarge bilirubin >/=75(th) percentile. Hyperbilirubinemia was defined as any bilirubin value >/=95(th) percentile on the hour-of-life-specific bilirubin nomogram. RESULTS: Forty-three (8.6%) neonates developed hyperbilirubinemia. At 48 +/- 12 hours, median transcutaneous bilirubin was 8.3 mg/dL, 75(th) percentile 10.0 mg/dL, and 95(th) percentile 12.6 mg/dL. Of the risk factors, only exclusive breast-feeding, G-6-PD deficiency and predischarge bilirubin >/=75(th) percentile were significant (Adjusted Odds Ratios [95% Confidence Intervals; CI] 3.15 [1.39-7.14], P = .006; 4.96 [2.28-10.80], P = .001; and 7.47 [3.50-15.94], P < .0001, respectively). G-6-PD-deficient neonates who were also premature and breast-feeding had the highest incidence of hyperbilirubinemia (60%). CONCLUSIONS: African American male neonates may be at higher risk for hyperbilirubinemia than previously thought. Screening for G-6-PD deficiency and predischarge bilirubin determination may be useful adjuncts in hyperbilirubinemia prediction in these newborns. 相似文献
7.
Effect of phenobarbital treatment on erythrocyte glucose-6-phosphate dehydrogenase in human newborns
E Laconi S Dessì B Batetta P Pani L Pirisi C Andria A Macciotta 《Pediatric pharmacology (New York, N.Y.)》1983,3(2):59-62
The effect of phenobarbital (PB) treatment on erythrocyte glucose-6-phosphate dehydrogenase (G-6-PD) levels was studied in normal and G-6-PD-deficient human newborns. An increase of erythrocyte G-6-PD levels was observed in normal G-6-PD patients, while increase in the enzymatic activity was not observed in G-6-PD-deficient neonates. 相似文献
8.
遗传因素在广西新生儿高胆红素血症中的作用 总被引:7,自引:0,他引:7
目的探讨UGT1A1 G71R突变、OATP2A388G突变和G-6-PD缺乏对在广西新生儿高胆红素血症发病的作用。方法用四氮唑蓝定量法(NBT法)测定G-6-PD酶活性。聚合酶链反应-等位基因特异性寡核苷酸探针点杂交(PCR-ASO)法确定G71R基因型。限制性片段长度多态性分析(RFLP)检测A388G基因型。测定109例新生儿脐血的G-6-PD活性及G71R基因型,其中101例同时检测了A388G基因型。据G-6-PD活性及G71R或A388G基因型分组,分析UGT1A1G71R突变、OATP2A388G突变和G-6-PD缺乏与足月新生儿高胆红素血症之间关系。结果G71R等位基因频率在G-6-PD缺乏组为22.03%,在G-6-PD正常组为28.00%。G-6-PD缺乏共存有G71R突变纯合子或杂合子的新生儿高胆红素血症发生率(95.50%)高于G-6-PD正常且G71R为野生型的新生儿(53.90%),x^2=10.45,P=0.0012,前者发生高胆红素血症的机会比(95%可信区间)[OR(95%CI)]为18.00(2.12,152.9)。A388G等位基因频率在G-6-PD缺乏组为20.O%,在G-6-PD正常组为18.5%。G-6-PD缺乏共存有A388G突变新生儿的高胆红素血症发生率(90.0%)高于G-6-PD正常且A388G为野生型的新生)L(44.80%),X2=10.39,P=0.0013,前者发生高胆红素血症的伽(95%CT)为11.08(2.15,56.48)。结论G71R突变与G-6-PD缺乏共存或A388G突变与G-6-PD缺乏共存对广西足月新生儿高胆红素血症的发生有协同作用。 相似文献
9.
M Kaplan HJ Vreman C Hammerman C Leiter B Rudensky MG MacDonald DK Stevenson 《Acta paediatrica (Oslo, Norway : 1992)》1998,87(4):455-457
The incidence (%) of hyperbilirubinemia (serum bilirubin ≥257 μmol/l) was similar in neonates with a combination of ABO incompatibility and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency (45%), with ABO incompatibility (54%) or G-6-PD deficiency (37%), alone (ns). Carboxyhemoglobin values, corrected for inspired CO, were similarly elevated in all three groups (0.87 ± 0.32%, 0.82 ± 0.29%, 0.76 ± 0.18%, respectively, ns), but correlated with bilirubin only in those with ABO incompatibility alone. ABO-incompatible/G-6-PD-deficient neonates, compared with those with either condition alone, are not at increased risk for hemolysis or hyperbilirubinemia. 相似文献
10.
Genetic polymorphisms in Thai neonates with hyperbilirubinemia 总被引:1,自引:0,他引:1
Sariya Prachukthum Pracha Nunnarumit Paneeya Pienvichit Ampaiwan Chuansumrit Daunthida Songdej Saowanee Kajanachumpol Samart Pakakasama Suradej Hongeng 《Acta paediatrica (Oslo, Norway : 1992)》2009,98(7):1106-1110
Aim: Polymorphisms of the UGT1A1 gene, SLCO1B1 gene and GST gene have been associated with significant hyperbilirubinemia. We would like to determine whether the variation of UGT1A1 gene, SLCO1B1 gene and GST gene may play a significant role in neonatal hyperbilirubinemia in Thai infants.
Methods: Ninety-one study subjects (hyperbilirubinemic group) and 86 control subjects were studied.
Results: The cause of neonatal hyperbilirubinemia could not be identified in 64 infants (70.3%), ABO blood group incompatibility in 14.3% and Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in 8.8%. In the hyperbilirubinemic group, 23 of 91 (25.3%) infants demonstrated variant of UGT1A1 at nucleotides (nt) 211 as compared to 6 of 86 (7%) in the control group (p = 0.001). There were no significant differences between groups in the variants UGT1A1 at nt 686, SLCO1B1 gene at nt 388, 463 and the GST gene. Male infants with G-6-PD deficiency were associated with hyperbilirubinemia (21.2% vs. 4.8% in the control group) with an odds ratio (OR) of 5.37 (p =0.02). The relationship between G-6-PD and variant in UGT1A1 gene at nt 211 could not be determined.
Conclusion: Thai infants with variant in the UGT1A1 at nt 211 or with G-6-PD deficiency are at higher risk for developing neonatal hyperbilirubinemia. 相似文献
Methods: Ninety-one study subjects (hyperbilirubinemic group) and 86 control subjects were studied.
Results: The cause of neonatal hyperbilirubinemia could not be identified in 64 infants (70.3%), ABO blood group incompatibility in 14.3% and Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in 8.8%. In the hyperbilirubinemic group, 23 of 91 (25.3%) infants demonstrated variant of UGT1A1 at nucleotides (nt) 211 as compared to 6 of 86 (7%) in the control group (p = 0.001). There were no significant differences between groups in the variants UGT1A1 at nt 686, SLCO1B1 gene at nt 388, 463 and the GST gene. Male infants with G-6-PD deficiency were associated with hyperbilirubinemia (21.2% vs. 4.8% in the control group) with an odds ratio (OR) of 5.37 (p =0.02). The relationship between G-6-PD and variant in UGT1A1 gene at nt 211 could not be determined.
Conclusion: Thai infants with variant in the UGT1A1 at nt 211 or with G-6-PD deficiency are at higher risk for developing neonatal hyperbilirubinemia. 相似文献
11.
Kaplan M Slusher T Renbaum P Essiet DF Pam S Levy-Lahad E Hammerman C 《Pediatric research》2008,63(1):109-111
Nigerian neonates have a high incidence of bilirubin encephalopathy. Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is prevalent in this population. (TA)7 promoter polymorphism in the gene encoding the bilirubin conjugating enzyme UDP-glucuronosyltransferase 1A1 (UGT1A1) potentiates hyperbilirubinemia in G-6-PD deficient neonates. We studied (TA)n allele frequency to determine, at least in part, its contribution to the frequency and severity of hyperbilirubinemia. DNA was extracted from umbilical cord blood of sequentially born Nigerian neonates and the (TA)n UGT1A1 promoter sequence determined. The (TA)n allele distribution was compared with reported adults of varying African ancestry and Sephardic Jewish neonates. Among 88 Nigerian neonates, (TA)6 and (TA)7 alleles were almost equally distributed (0.46 and 0.43, respectively). Some individuals with (TA)5 and (TA)8 sequences were encountered. Allele distribution was similar to that of the African ancestry population but differed from the Sephardic Jewish newborns, in whom the (TA)6/(TA)7 distribution was 0.65/0.35. Whereas 45% of Nigerian alleles and 50% of African ancestry alleles, respectively, included a (TA)7 or (TA)8 sequence, only 35% of Jewish alleles were (TA)7 (p < 0.001), and no (TA)8 alleles were encountered. The high frequency of (TA)n promoter polymorphism, coupled with G-6-PD deficiency, may contribute to the pathogenesis of extreme neonatal hyperbilirubinemia in Nigeria. 相似文献
12.
Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is frequently associated with neonatal hyperbilirubinemia, and sometimes kernicterus, often in the absence of any identifiable trigger or hematological evidence of hemolysis. The aim of this study was to compare the incidence and severity of, and the effect of phototherapy on, jaundice in G 6-PD-deficient vs G-6-PD-normal neonates in the Sephardic-Jewish community. Healthy term newborns, born to mothers of families stemming from geographic areas known to be "at risk" for G-6-PD deficiency, were screened for the condition and surveyed for hyperbilirubinemia. Seventy-five G-6-PD-deficient neonates formed the study group, while 266 neonates with normal levels of the enzyme formed the control group. Neonates with any other identifiable cause for jaundice were excluded. Phototherapy was commenced when the serum bilirubin levels reached 16 mg/dL (274 mumol/L) or more, and it was discontinued at 12 mg/dL (205 mumol/L) or less. Hyperbilirubinemia developed in 27 (36%) of the deficient neonates (serum total bilirubin greater than 13.9 mg/dL [238 mumol/L]), compared with 50 (18.8%) of control neonates (P = .002), while 20 (26.7%) of the study group required phototherapy, compared with 31 (11.7%) of control neonates (P = .002). Two neonates in the study group required exchange transfusion (serum bilirubin greater than 20 mg/dL [342 mumol/L]), vs 0 in the control group (not significant).(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
13.
Cord plasma alpha-fetoprotein values and neonatal jaundice 总被引:1,自引:0,他引:1
Umbilical cord plasma alpha-fetoprotein (AFP) values were determined in 127 infants with hyperbilirubinemia (56 glucose-6-phosphate dehydrogenase (G-6-PD) deficient and 71 G-6-PD normal) and 136 control subjects (73 G-6-PD deficient and 63 G-6-PD normal). The mean alpha-fetoprotein value of 173 +/- 35.2 (SD) mg/L for the group of infants with hyperbilirubinemia was significantly greater than that (122 +/- 21.7 mg/L) for the control infants (P less than .001). G-6-PD status and sex did not significantly affect the alpha-fetoprotein values. Using an alpha-fetoprotein level of 130 mg/L as a "cut-off" value, the incidence of false-positive results was 25.5% and the incidence of false-negative results was 11.8%. This test can be used as a screening procedure to detect infants at high risk for hyperbilirubinemia. 相似文献
14.
Phototherapy was employed in treatment of newborn infants with erythrocyte G-6-PD deficiency whose serum bilirubin concentrations exceeded 10 mg/100 ml on the second or third day of life. Exchange transfusions were required for two of the 12 treated babies and for six of the 12 control infants. It is noteworthy that exposure to light did not affect the erythrocyte GSH content nor did it increase hemolysis. 相似文献
15.
广西是我国G-6-PD缺陷高发区。G-6-PD缺陷发病的主要表现为急慢性溶血性贫血和由此而产生的高间胆红素血症及胆汁郁积。近十年我院门诊及病房440例患儿:237例新生儿高间胆包括核黄症后遗症患儿。G-6-PD缺陷检出率达69.6%,其中显著缺陷43.9%(104/237),中间值25.7%(61/237);103例3个月以下的婴儿贫血原因待查患儿,G-6-PD缺陷检出率达59.22%(36/103);100例婴儿肝炎综合征患儿,G-6-PD缺陷检出率达18%(18/100)。G-6-PD缺陷男女经例为2.37:1。67例进行家系调查,28例G-6-PD缺陷男婴,母亲检出率为67.8%(18/28);14例G-6-PD缺陷女婴,父亲检出率43%(6/14),母亲检出率50%(7/14)。说明了在我区G-6-PD缺陷是引起新生儿高间胆以及核黄痊后遗症、婴幼儿贫血较常见而且重要原因之一。 相似文献
16.
A prospective study of 454 newborn babies with pathological hyperbilirubinemia revealed that in about one-third of cases (34.6%), no cause could be identified despite detailed investigations. Nearly three-fifth of infants (62.5%) had hyperbilirubinemia due to hemolytic causes. On the basis of four variables, i.e., peak serum bilirubin level, age of attaining the peak level, age of starting phototherapy and total duration of phototherapy, the cases of hyperbilirubinemia can be categorized into three groups: (a) Group I (mild) included non-hemolytic hyperbilirubinemia, i.e., idiopathic, bacterial infections, intrauterine infections and others, (b) Group II (moderate) comprised of hemolytic as well as non-hemolytic hyperbilirubinemia due to prematurity, administration of oxytocin, bruising/cephalhematoma, and (c) Group III (severe) comprised of hyperbilirubinemia due to hemolysis as a result of blood group incompatibility between the mother and the neonate and G-6-PD deficiency. Sixty six babies required exchange blood transfusion (EBT) and a total of 100 EBTs were performed. Most of the babies (80.3%) requiring exchange blood transfusion belonged to Group III. The most common cause of hemolytic hyperbilirubinemia needing exchange blood transfusion was Rh isoimmunization followed by G-6-PD deficiency and ABO isoimmunization. There was no death attributable to the procedure of exchange blood transfusion. 相似文献
17.
广西南宁地区G6PD基因突变与新生儿黄疸的关系 总被引:1,自引:0,他引:1
目的:分析本地区最常见的三种基因突变型G1388A、G1376T和A95G与葡萄糖-6-磷酸脱氢酶(G-6-PD)活性之间的相关性,并探讨G-6-PD基因突变对新生儿黄疸的影响。方法:124例广西南宁的高胆红素血症新生儿为研究对象。应用突变特异性扩增系统法检测G-6-PD基因突变,应用硝基四氮唑蓝(NBT)定量法检测G-6-PD活性。比较G-6-PD不同基因突变型之间以及与正常组之间胆红素脑病发生率、出生72 h后血清胆红素峰值组间的差异。采用非条件logistic回归分析血清胆红素值>340 μmol/L的危险度。结果:124例中有37例G-6-PD 基因突变(G1388A 20例,G1376T 14例,A95G 4例,1例同时存在G1388A与A95G突变)。20例G1388A突变者中5例(25%)G-6-PD酶活性正常,14例G1376T突变者中4例(29%)G-6-PD酶活性正常,4例A95G突变者G-6-PD 酶活性均缺乏。G1388A与G1376T组胆红素脑病发生率及出生72 h后血清胆红素峰值差异无显著性。G-6-PD 突变组出生72 h后血清胆红素峰值、胆红素脑病发生率及血清胆红素>340 μmol/L的危险度与G-6-PD正常组相比,差异无显著性。结论:广西南宁地区G-6-PD突变仍常见G1388A、G1376T和A95G基因型。NBT法诊断G-6-PD缺乏存在假阴性。不同基因型对出生72 h后血清胆红素峰值、胆红素脑病发生率的影响无差异。单独的G-6-PD基因突变对生后72 h血清胆红素峰值、急性胆红素脑病发生率及血清胆红素大于340 μmol/L危险性均无影响。[中国当代儿科杂志,2009,11(12):970-972] 相似文献
18.
目的:运用多聚酶链反应-变性梯度凝胶电泳(PCR-DGGE)技术检测葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏患者及基因携带者基因变异,探讨其对该病的诊断和研究价值。方法:提取G-6-PD缺乏症患者及其家系(患者父亲和/或母亲等)的外周血RNA,逆转录合成cDNA后,选取第11至12外显子部分cDNA片段进行PCR-DGGE,观察其电泳行为,将电泳行为异常的标本进行基因测序,最后做出基因诊断。结果::36个家系中33个家系发现G-6-PD基因在1304至1520片段出现PCR-DGGE多种异常电泳区带。9例母亲G-6-PD/6-PGD比值低于1.00,其中3例比值低于0.50,而且PCR-DGGE电泳行为一致,基因测序发现为双重杂合子;比值正常的G-6-PD缺乏基因携带者母亲均为单杂合子。该片段基因测序发现3个突变位点分别为:C1311T,G1376T,G1388A。各基因突变的位点有其特殊的电泳行为。结论:PCR-DGGE技术是一种敏感性高、可靠性强的筛查基因突变的方法。在临床研究G-6-PD缺乏,特别是常规诊断技术不能发现的女性G-6-PD缺乏基因携带者的检测中具有很强的应用价值。[中国当代儿科杂志,2007,9(6):529-532] 相似文献
19.
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。 相似文献
20.
目的 探讨新生儿高胆红素血症再入院情况及相关危险因素。方法 选择2017年1月至2019年12月新生儿高胆红素血症再入院患儿85例作为研究组,按1:2比例在同期新生儿高胆红素血症未再入院病例中配对随机选取170例作为对照组,分析比较两组患儿的临床资料及再入院的危险因素。结果 研究期间新生儿高胆红素血症再入院率为2.30%,中位再入院间隔天数为5 d。研究组首次出院时总胆红素和间接胆红素水平明显高于对照组(P < 0.05);首次住院期间蓝光治疗时间长于对照组(P < 0.05)。研究组出生体重、胎龄、首次入院时年龄均低于对照组(P < 0.05),研究组合并葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症比例和合并溶血病比例高于对照组(P < 0.05)。多因素logsitic分析显示,胎龄小、首次入院时年龄小、合并G-6-PD缺乏症是新生儿高胆红素血症再入院的危险因素(分别OR=1.792、1.415、2.829,P < 0.05)。结论 对存在胎龄小、首次入院时年龄小、合并G-6-PD缺乏症等高危因素的高胆红素血症新生儿,应加强住院及出院后管理,防止该病再入院的发生。 相似文献