对葡萄糖-6-磷酸脱氢酶缺乏致新生儿黄疸进行早期干预的可行性分析

目的：探讨对葡萄糖-6-磷酸脱氢酶（G-6-PD）缺乏导致黄疸的新生儿进行早期干预的可行性。方法运用酶动力法对新生儿脐血行 G-6-PD 活性测定,运用化学法对黄疸患儿进行总胆红素及直接胆红素测定,运用荧光免疫法对黄疸患儿进行同型半胱氨酸（Hcy）测定,对 G-6-PD 缺乏患儿进行早期口服苯巴比妥及肌肉注射维生素 E,对早期出现黄疸者,则给予清蛋白或光照等干预治疗,预防并纠正贫血;同时以未经干预的 G-6-PD 缺乏患儿195例作为对照组并进行相关数据比较。结果干预组的656例 G-6-PD 缺乏患儿中,出现新生儿病理性黄疸者530例,黄疸发生率80．8％,出现高胆红素血症者139例,高胆红素血症发生率21．2％。对照组的195例 G-6-PD 缺乏患儿中,出现新生儿病理性黄疸者190例,黄疸发生率97．4％,出现高胆红素血症者159例,高胆红素血症发生率81．5％。干预组与对照组之间的高胆红素血症发生率差异有统计学意义（P ＜0．05）。干预组 Hcy平均浓度为11．2μmol/L,与对照组（29．6μmol/L）比较,差异也有统计学意义（P ＜0．05）。结论对 G-6-PD 缺乏患儿进行科学、系统的早期干预,能有效减轻患儿黄疸发生率。     

266例新生儿高胆红素血症病因分析

目的分析2007年百色市人民医院新生儿高胆红素血症的常见病因,了解本地区该病的主要病因和各种病因引起的黄疸程度。方法统计百色市人民医院新生儿高胆红素血症常见病因的例数,各病因所占的比例及总胆红素值。结果百色市人民医院新生儿高胆红素血症发病因素的前8位是葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏、地中海贫血、新生儿缺血缺氧性脑病及颅内出血、感染、母乳性、早产低体质量儿、原因不明、ABO溶血病,高胆红素血症最重的病因是G-6-PD缺乏。结论本院患儿G-6-PD缺乏是黄疸首要因素,也是病情最重的因素。     

新生儿葡萄糖-6-磷酸脱氢酶缺乏症的筛查与分析

目的通过对新生儿葡萄糖-6-磷酸脱氢酶（glucose-6-phosphate dehydrogenase,G-6-PD）缺乏症的筛查及临床分析,了解桂平市新生儿G-6-PD缺乏情况及G-6-PD缺乏幼儿与高胆红素血症的相关性。方法对2010年7月至2011年7月在该院出生的3 402例新生儿进行G-6-PD测定,统计分析G-6-PD缺乏情况,并跟踪回访新生儿至出生后第10天,如果出现黄疸应立即采血测定胆红素,对新生儿高胆红素血症的发生率进行比较分析。结果新生儿G-6-PD缺乏症发病率为10.35%（352/3 402）,男婴G-6-PD缺乏率为14.28%（264/1 849）;女婴G-6-PD缺乏率为5.66%（88/1 553）。G-6-PD缺乏幼儿高胆红素血症的发生率为25.3%,明显高于G-6-PD正常新生儿的2.6%（P〈0.01）。结论广西桂平市是G-6-PD缺乏症的高发区,对G-6-PD缺乏症的筛查非常有意义,能有效提示医生谨慎用药和指导患儿避免接触诱因,预防溶血的发生,提高该地区人群的健康素质。     

新生儿ABO溶血病并红细胞葡萄糖-6-磷酸脱氢酶缺乏症临床对比分析

目的 探讨新生儿ABO溶血病、红细胞葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症及两者合并患儿的临床特点.方法 对160例新生儿ABO溶血病(ABO组)、219例G-6-PD缺乏症(G6PD组)、52例新生儿ABO溶血病并G-6-PD缺乏症(ABO+G617D组)3组临床相关指标进行对比分析.结果 G6PD组血红蛋白[(159.7±24.9)g/L]高于ABO组[(150.2±23.0)g/L]和ABO+G6PD组[(149.2±22.8)g/L],差异均有统计学意义(P均<0.01);血清总胆红紊高于ABO组[(419.0±152.9)μmol/L与(355.4±113.2)μmol/L],差异有统计学意义(P<0.01);黄疸消退时间较ABO组长[(9.4±2.3)d与(8.1±2.2)d],差异有统计学意义(P<0.01).ABO+G6PD组黄疸消退时间[(12.0±2.7)d]、光疗时间[(43.2±16.0)h]、光疗次数[(3.5±1.2)次]均长或多于ABO组[(8.1.4-2.2)d、(36.1 4-15.9)h、(2.6±1.2)次]及其G6PD组[(9.4±2.3)d、(37.6±17.3)h、(2.8 4-1.3)次],差异均有统计学意义(P均<0.05).G6PD组胆红素脑病(16.O%)、低钙血症发生率(32.9%)高于ABO组(6.9%、20.0%),差异有统计学意义(P<0.05);而其贫血发生率(23.3%)则低于ABO组(40.0%)及其ABO+G6PD组(51.9%),差异有统计学意义(P<0.01).结论 新生儿ABO溶血病并G-6-PD缺乏症时,黄疸出现时间、黄疸程度、胆红素脑病发生率与新生儿ABO溶血病、G-6-PD缺乏症差异无显著性,但黄疸消退时间更长,黄疸更易反复.G-6-PD缺乏症与新生儿ABO溶血痛相比,黄疸程度更重,退黄时间更长,更易发生胆红素脑病,但贫血发生率更低.     

地中海型6-磷酸葡萄糖脱氢酶缺乏时服用大剂量维生素E减轻慢性溶血

维生素E可预防维生素E缺乏的家兔发生氧化剂所致溶血时的脂类过氧化含巯基氧化,人类维生素E缺乏也与红细胞对氧化剂的敏感性增加有关,氧化剂使红细胞寿命缩短,维生素E可使其得到纠正。遗传性红细胞疾病——谷胱甘肽合成酶和6-磷酸葡萄糖脱氢酶(G-6-PD)缺乏的特点是细胞还原能力减低和红细胞寿命缩短。谷胱甘肽合成酶缺乏时溶血是由于血红蛋白氧化变性、血红蛋白和膜蛋白间     

不同光疗方式对G6PD缺乏致新生儿高胆红素血症的疗效观察

目的观察不同光疗方式对G6PD缺乏致新生儿高胆红素血症的治疗效果。方法自2003—2008年,我科收治的G6PD缺乏致新生儿高胆红素血症102例,随机分为间歇光疗与持续光疗两组进行疗效观察,间歇光疗组照6h中间休6h,2次／d,共48例;持续光疗组54例,持续光疗组24h光疗。每天测定微量胆红素值,直至降至205．6μmol／L以下,其结果两组每天胆红素下降值、及降至〈205．6μmol／L,所需天数差异均无显著性差异,说明间歇光疗可以代替持续光疗。     

新生儿黄疸葡萄糖-6-磷酸脱氢酶活性检测及临床意义

目的通过新生儿葡萄糖-6-磷酸脱氢酶(G-6-PD)活性检测,了解耒阳地区新生儿黄疸患儿G-6-PD缺乏情况,为新生儿黄疸的临床诊断及治疗提供科学依据。方法对235例新生儿黄疸患者进行血浆G-6-PD活性测定。结果 235例新生儿中G-6-PD缺乏者4例,阳性率为1.7%。结论 G-6-PD缺乏为新生儿黄疸的重要原因,对G-6-PD缺乏的新生儿进行早期干预,能有效减轻G-6-PD缺乏,从而减轻新生儿溶血的程度,避免发生核黄疸。     

肇庆市G-6-PD缺乏者筛查和基因突变的分析

葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏是最常见的人类遗传性代谢病之一,属X连锁不完全显性遗传病。它是引起蚕豆病、药物性溶血、新生儿高胆红素性溶血症、感染性溶血等疾病的遗传基础。G-6-PD缺陷是由于基因突变引起的。国际上已报道的该基因内部不同位点的点突变达50种以上,另外,还发现一个密码子的缺失型突变,其中11种点突变是在中国人体内发现的。 我们通过对1147例市直机关干部体检者进行高铁血红蛋白还原试验、G-6-PD活性以及G-6     

2847例新生儿葡萄糖-6-磷酸脱氢酶缺乏症的筛查与分析

目的通过对2847例足月儿、早产儿葡萄糖-6-磷酸脱氢酶（G-6-PD）缺乏症的筛壹及临床分析,了解石狮市新生儿G6-PD缺乏情况,并为患该病新生儿的防治提供参考依据。方法采用葡萄糖-6-磷酸底物法（连续监测速率法）对2847例新生儿G-6-PD活性进行定量检测,并对筛查结果进行分析。结果新生儿G-6-PD缺乏症的发病率为6．43％（183／2847）,其中男婴的发病率为8．41％（130／1545）,女婴的发病率为4．07％（53／1302）。早产儿G6-PD缺乏症的发病率9．22％（26／282）高于足月儿6．12％（157／2565）。p6-PD缺乏新生儿高胆红素血症发生率为27．87％（51／183）,明显高于G6-PD正常新生儿3．08％（82／2664）。G-6-PD缺乏早产儿高胆红素血发病率为42．31％（11／26）,显著高于G6-PD缺乏足月儿25．48％（40／157）。结论常规开展新生儿G6-PD缺乏症的筛查工作,对G6-PD缺乏症患者及时采取预防性措施,避免因出现核黄疸而造成的智力低下或死亡等后果。对新生儿进行该项指标的筛查,可以有效预防溶血症的发生,并对有效预防新生儿黄疸有重要意义。     

G-6-PD缺陷致新生儿高未结合胆红素血症不同治疗方法探讨

选取我院2010年3月～2011年3月收治的45例确诊患有G-6-PD缺陷的新生儿。随机将患儿分为两组,分别为光疗组和换血组。结果接受换血治疗的患儿其黄疸消退较快,两组患儿对比有显著性差异(P<0.01);而且其血清中的胆红素下降较为明显,两组数据对比有显著性差异(P<0.01)。光疗组患儿出现不良反应5例,明显要比换血组患儿出现的不良反应(9例)要少,两组对比有显著性差异(P<0.01)。光法治疗以及换血治疗均能有效治疗由于G-6-PD缺陷所引起的新生儿高未结合胆红素血症,并且均能获得较好的临床治疗效果,实际临床治疗方案选择应该根据患儿的实际情况选择合适合理有效的治疗方法。     

Antioxidant capacity of G-6-PD-deficient erythrocytes

Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is the most common human enzymopathy. In this research, we studied two groups consisting of 30 male subjects who are G-6-PD deficient and 30 normal male subjects matched with the G-6-PD-deficient patients for age. All 30 assays were performed under normal conditions free of any oxidative attack that may result in haemolytic crisis in G-6-PD-deficient subjects. The erythrocyte glucose-6-phosphate dehydrogenase, superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GSH-Px), glutathione-S-transferase (GST) activities, reduced glutathione (GSH) levels and erythrocyte and plasma thiobarbituric acid-reactive substances (TBARS) levels were measured. All parameters in each group did not differ significantly except for G-6-PD levels. These data show that G-6-PD-deficient subjects can survive in normal conditions unless they are exposed to any oxidative stress.     

广西地区新生儿疾病筛查结果回顾性分析

目的：了解2009～2012年广西地区新生儿疾病筛查情况及确诊率。方法通过检测促甲状腺素（TSH）筛查甲状腺功能减低症（CH）、苯丙氨酸（PHe）筛查苯丙酮尿症（PKU）、17-羟孕酮（17-OHP）筛查先天性肾上腺皮质增生症（CAH）、葡萄糖-6-磷酸脱氢酶（G-6-PD）筛查G-6-PD缺乏症,对初次筛查阳性的患儿进行及时召回并确诊。结果2009年1月至2012年12月广西新生儿疾病筛查中心合作单位的新生儿筛查率呈逐年上升趋势且CH、PKU、CAH、G-6-PD初次筛查阳性患儿召回率及确诊率存在差异。结论新生儿筛查可以在早期发现CH、PKU、CAH、G-6-PD缺乏症患儿,对其早期进行干预可以防止其发病从而降低对其智力及生长发育的影响,对提高人口素质有重要意义。     

四川遂宁地区献血者G-6-PD调查及进食蚕豆对蚕豆病儿输血的影响

应用改良四唑氮兰法对2483名献血者进行红细胞G-6-PD调查,G-6-PD缺乏率为8.3％,其中显著缺乏率为2.1％。建立献血者G-6-PD调查档案,防止蚕豆病儿输入缺乏G-6-PD的血液,提高了输血安全。观察献血者进食蚕豆后不同时间(2～4小时,12～24小时,2～3天)采血对蚕豆病儿输血的影响,各观察组临床症状与外周血Hb的恢复、G-6-PD活性的改变和对照组比较无明显差别,各组均未发现再溶血病例。提示蚕豆病儿在急性溶血后“不应期”内输入进食了蚕豆的献血者的血液无明显不良影响。     

Association of Naphthalene with Acute Hemolytic Anemia

OBJECTIVES: To describe the prevalence and severity of naphthalene-associated hemolysis (NA1) and infection-associated hemolysis (IAH) in children with glucose-6-phosphate dehydrogenase (G6-PD) deficiency. To survey the rationale for naphthalene-containing moth repellent (mothball) use in the study population and to compare this with that of a more diverse population. METHODS: A ten-year retrospective chart review of 160 patients with G-6-PD deficiency and/or anemia and an analysis of 24 hospitalized African-American children with an episode of acute hemolysis associated with G-6-PD deficiency were conducted. The parents of 330 children cared for in the pediatric emergency departments (EDs) of two tertiary care centers were questioned regarding domestic mothball (naphthalene) use. RESULTS: Fourteen of 24 (58.3%) of the children identified with G-6-PD deficiency presented with hemolysis associated with exposure to naphthalene-containing moth repellents. The remaining ten had IAH. Seventy-nine percent of the NAH group required transfusion, compared with 60% of the IAH group. Mothballs were reportedly used by 27% of the families surveyed in one inner-city population with a 2-13% incidence of G-6-PD deficiency and by 15% in a more culturally diverse city. The main reported motivation for use was the fresh scent, not as a moth repellent. CONCLUSIONS: Mothballs are used for previously unrecognized reasons. Naphthalene-containing mothballs can pose a hematologic threat to vulnerable populations.     

Genetic diversity of the “Mediterranean” glucose-6-phosphate dehydrogenase deficiency phenotype

Genetic diversity of the "Mediterranean" phenotype of G-6-PD (glucose-6-phosphate dehydrogenase) deficiency was revealed when detailed studies were performed on blood specimens from 79 Greek males with G-6-PD levels 0-10% of normal. Four different mutants were found to be responsible for the severely deficient phenotypes: two mutants. G-6-PD U-M (Union-Markham) and G-6-PD Orchomenos, were distinguishable by electrophoresis, while the other two. G-6-PD Athens-like and G-6-PD Mediterranean, were distinguishable on the basis of their kinetic characteristics. Of the kinetic tests applied, the most useful for differentiating the variants were those measuring utilization rates of the analogue substrates deamino-NADP, 2-deoxyglucose-6-phosphate, and galactose-6-phosphate. Among unrelated males with severe G-6-PD deficiency, the relative frequencies of the four variants were: G-6-PD U-M. 5%; G-6-PD Orchomenos, 7%; G-6-PD Athens-like, 16%; G-6-PD Mediterranean, 72%. Genetic, biochemical, and clinical implications of the findings are discussed.     

Evidence for an effect on erythrophilic IgG-globulin coat by the haemolytic process

Erythrophilic IgG globulin coat (IgG E-C) is a fraction separated from serum IgG-globulin by cellulose phosphate column chromatography. It is easily eluted from the red blood cells and may be quantitated by a method described in this paper. This method was applied to 20 completely healthy newborns and to 81 newborns with severe jaundice of various aetiology (i.e. ABO isoimmunisation, haemolysis severe; ABO isoimmunisation, haemolysis mild; G-6-PD deficiency, haemolysis severe; G-6-PD deficiency, haemolysis mild; ABO incompatibility; Rh isoimmunisation and unknown aetiology). It was also applied to 19 children with favism and 10 age matched symptomless children with G-6-PD deficiency. IgG E-C mean values were higher in newborns with severe jaundice due to ABO isoimmunisation or G-6-PD deficiency as compared to those with jaundice of other aetiology or the healthy controls. The difference was even more pronounced in cases with severe haemolysis (0.01 > p > 0.001). They were also higher in children with G-6-PD deficiency only during the crisis of favism (0.01 > p > 0.001). It is concluded that IgG E-C increases during acute haemolysis.     

Intravascular hemolysis in aluminium phosphide poisoning.

Intravascular hemolysis is most often secondary to exposure to a variety of drugs or infections, and usually occurs in patients who are deficient in glucose-6-phosphate dehydrogenase (G-6-PD) enzyme. Aluminium phosphide, a fumigant widely used in India, has been reported to produce intravascular hemolysis in only one patient who also had concomitant G-6-PD deficiency. This report describes the occurrence of intravascular hemolysis with aluminium phosphide poisoning in a patient with normal G-6-PD levels. This is of significance as jaundice in patients with this poisoning is often attributed to hepatic damage alone.