食新鲜蚕豆致蚕豆病1例

蚕豆病是一种红细胞葡萄糖6-磷酸脱氢酶（G-6-PD）缺乏所导致的疾病，表现为在遗传性葡萄糖-6-磷酸脱氢酶（G-6-PD）缺陷的情况下，食用新鲜蚕豆或其制品后突然发生的急性血管内溶血。严重者可出现昏迷、惊厥和急性肾衰竭，若抢救不及时，常于1-2d死亡。笔者在临床中曾遇1例，因诊断救治及时，患儿性命得以挽救，现报告如下。     

新生儿红细胞G-6-PD活性和G-6-PD/6-PGD比值参考范围调查

【目的】探讨采用速率法(亦称连续监测法)通过全自动生化仪定量测定新生儿红细胞葡萄糖-6-磷酸脱氢酶(G-6-PD)活性的可行性,并建立新生儿参考范围。【方法】采用速率法和改良G-6-PD比值法(简称改良比值法)分别测定新生儿红细胞G-6-PD活性和G-6-PD/6-PGD比值,并建立新生儿参考范围。【结果】速率法测定新生儿红细胞G-6-PD活性95%参考范围为4.537~10.078 U/g Hb,99%参考范围为3.192~11.013 U/g Hb。改良比值法测定新生儿红细胞G-6-PD/6-PGD比值95%参考范围为1.005~2.196,99%参考范围为0.821~2.128。直线相关分析显示,速率法测定新生儿红细胞G-6-PD活性与改良比值法测定新生儿红细胞G-6-PD/6-PGD比值的结果相关(r=0.443,P<0.05)。【结论】采用速率法可以完成红细胞G-6-PD活性定量测定,为临床常规需要服务,适合推广应用;新生儿参考范围的建立,将有利于新生儿红细胞G-6-PD缺乏症诊疗工作的普遍开展。     

新生儿红细胞葡萄糖-6-磷酸脱氢酶缺乏筛查结果分析

目的:了解广东省肇庆市端州区新生儿脐血红细胞葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏的发生率。方法:2 236例活产新生儿出生后即取脐血,采用定量法测定红细胞G-6-PD/6-PGD的比值,低于1.0者为G-6-PD缺乏。结果:G-6-PD缺乏的患儿152例,总发生率为6.79%。其中男129例,发生率为10.34%;女23例,发生率为2.32%,男性发生率明显高于女性(2χ=90.03,P<0.001)。结论:脐血G-6-PD活性筛查,能比较准确地检测出G-6-PD缺乏患儿,指导临床对其并发症进行早期干预,避免智力低下等后遗症的发生,提高人口素质。     

2013-2017年红河州、西双版纳州新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查结果分析

目的通过对2013-2017年云南省红河州、西双版纳州185 724例新生儿葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症筛查结果分析,了解这两个少数民族自治州的检出情况和差异,为该病在高发地区的新生儿筛查提供依据和参考。方法采集出生72 h后,7 d内并充分哺乳后的新生儿足跟血制成滤纸干血斑,应用荧光分析法测定干血斑的G-6-PD浓度,召回筛查阳性新生儿,采集静脉血以G-6-PD酶活性法或G-6-PD/6-磷酸葡萄糖脱氢酶(6-PGD)比值法进行确诊。结果男性新生儿G-6-PD缺乏症的检出率明显高于女性,差异有统计学意义(P <0. 01)。西双版纳州筛查阳性率为1. 50%,高于红河州的0. 48%;红河州阳性预测值为98. 80%,高于西双版纳州的94. 44%。筛查阳性率及阳性预测值差异均有统计学意义(P<0. 05)。结论红河州和西双版纳州是少数民族集中地区,属于G-6-PD缺乏症高发区,西双版纳州G-6-PD缺乏症检出率高于红河州。在西双版纳州等气温较高地区要特别注意样本采集和运送过程的储存条件,保证筛查结果准确性。     

6432例住院分娩活产儿G-6-PD缺陷症筛查状况

目的:了解6 432例住院分娩活产新生儿红细胞葡萄糖-6-磷酸脱氢酶(G-6-PD)缺陷症的筛查状况。方法:采用G6PD/6PGD比值法进行检测,ODG6PD/OD6GPD比值﹤1.0为G-6-PD缺陷症。结果:住院分娩活产儿G-6-PD筛查率为85.17%(5 478/6 432),男性G-6-PD缺陷症发生率为8.98%(253/2 818),高于女性〔1.80%(48/2 660)〕,差异有统计学意义(χ2=145.173,P<0.05)。结论:提高新生儿G-6-PD缺陷症的筛查率,及早发现G-6-PD缺陷症可避免核黄疸和药源性溶血的发生,提高人口素质。     

蚕豆病危重患儿的临床抢救与护理

蚕豆病,又称红细胞葡萄糖-6-磷酸脱氢酶（G-6-PD）缺乏症,是一种最常见的遗传性疾病,由于进食蚕豆或其制品而引起,一般在进食后数小时至数天发生急性血管内溶血。病情危重者如不及时治疗常于发病后1-2 d死亡[1-2]。     

日照市新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查结果分析

目的总结日照地区新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查结果,为该病新生儿筛查提供依据和参考,并了解其在日照地区发病及分布情况。方法以我市统计的18956例,新生儿G-6-PD缺乏症筛查结果为研究对象,通过荧光法测定其G-6-PD酶活性,判定G-6-PD是否缺乏。结果筛查新生儿18956例,阳性召回确诊病例52例,确诊4例,阳性率0.21%,符合本省其他地区发病概率及地区分布规律。结论新生儿进行G-6-PD筛查可降低疾病对健康的损害,提高出生人口素质。     

新生儿CH及PKU和G-6-PD缺乏筛查结果分析

目的:了解珠海市新生儿CH、PKU、G-6-PD缺乏症的发病率。方法:本院出生的10303例新生儿分别在出生时采脐血肝素抗凝和出生后72h采足跟血制成血斑。CH筛查采用DELFIA法检测血斑中TSH含量;PKU筛查采用荧光定量法检测血斑中Phe含量;G-6-PD缺乏筛查采用荧光斑点定性试验测定脐血中G-6-PD的活性。结果:10303例标本初筛查出CH6例,确诊4例,CH发病率为1/2576,暂时性高TSH血症2例;G-6-PD缺乏检出351例,检出率3·4%;PKU未检出。结论:新生儿疾病筛查可使CH、PKU、G-6-PD缺乏症患儿得到早期诊断和早期治疗,避免发生体格和智能发育障碍,是提高中华民族人口素质的重要措施之一,具有深远的社会意义。     

11574例新生儿脐血G-6-PD筛查结果分析

目的了解本地区G-6-PD缺陷的发生率及新生儿脐血筛查对诊断G-6-PD缺陷的应用价值。方法对产科出生的11574例全部活产婴作脐血G-6-PD筛查,分别于3~5岁对脐血检测G-6-PD缺陷者(320例)和G-6-PD正常者(215例)复查G-6-PD活性。结果11574例中,脐血检测G-6-PD缺陷641例,缺陷率为5.5%;男性缺陷率为7.9%,女性为3.0%,二者比较差异有统计学意义(P<0.001),对缺陷者复查幼儿血检测G-6-PD活性,二者符合率高达96.7%。结论G-6-PD缺陷在本地区常见,脐血筛查可作为诊断G-6-PD缺陷的有力依据,对降低其发病率有重要意义。     

新生儿脐血筛查对诊断G-6-PD缺陷的应用价值

目的通过比较新生儿脐血筛查G-6-PD缺陷与幼儿血检查G-6-PD缺陷,了解本地区G-6-PD缺陷的发生率及新生儿脐血筛查对诊断G-6-PD缺陷的应用价值.方法对我院产科出生的11574例全部活产婴作脐血G-6-PD筛查,分别于3～5岁对脐血检测G-6-PD缺陷者(320例)和G-6-PD正常者(215例)复查G-6-PD活性.结果11 574例中,脐血检测G-6-PD缺陷641例,缺陷率为5.5%;男性缺陷率为7.9%,女性为3.0%,两者有高度显著性差异(P＜0.001),对缺陷者复查幼儿血检测G-6-PD活性,两者符合率高达96.7%.结论G-6-PD缺陷在本地区常见,脐血筛查可作为诊断G-6-PD缺陷的有力依据,对降低其发病率有重要意义.     

Glucose-6-phosphate dehydrogenase deficiency, neonatal tetanus and neonatal jaundice in Nigeria: Clinical observation

In a study of 92 cases of neonatal tetanus (NNT), it was found that 23 (25%) had associated neonatal jaundice (NNJ) but in none of them was NNJ severe enough to cause kernicterus. Glucose-6-Phosphate dehydrogenase (G-6-PD) deficiency was less common in babies with NNT than expected in general population (p 0.02). These babies with NNT were as exposed to icterogenic agents as jaundiced babies previously reported from the same institution. The lower incidence of G-6-PD deficiency in babies with NNT was probably due to the fact that G-6-PD deficient babies on exposure to icterogenic agents develop severe NNJ early and may die of kernicterus. Antibiotic therapy in jaundiced babies may prevent NNT in some of the G-6-PD deficient babies who are more prone to severe NNJ. More of the G-6-PD normal babies therefore remained at home till they develop NNT.

It is speculated that steps taken to prevent NNJ in the G-6-PD deficient babies by avoiding application of potentially infected icterogenic agents (i.e. menthol containing dusting powder or balms) to the cord will also prevent NNT in some of the G-6-PD normal babies.     

广东粤北地区新生儿疾病筛查及防治对策研究

目的 分析2009-2012年广东省粤北地区新生儿疾病筛查现状和先天性甲状腺功能减低症（CH）、葡萄糖-6-磷酸脱氢酶缺乏症（G-6-PD）和苯丙酮尿症（PKU）的发病率情况.方法 对粤北地区2009-2012年新生儿疾病筛查资料进行回顾性分析.结果粤北地区2009-2012年的新生儿疾病平均筛查率为88.84％,并且逐年升高.CH发病率为0.56‰（1：1789）,高于广东其他城市;G-6-PD 7 759例,检出率为4.93％（1：20）; PKU 2例,检出率为0.013‰（1：78 707）.结论 总结分析粤北地区新生儿疾病筛查现状,为今后筛查工作的进展提供科学依据,对提高粤北地区出生人口素质,减少出生缺陷率,保障耍幼儿健康发展起着关键作用.     

Association between glucose-6-phosphate dehydrogenase deficiency and neonatal jaundice: interaction with multiple risk factors.

This nonconcurrent cohort study was carried out to evaluate the association of neonatal jaundice with glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and its interactions with other risk factors. The G-6-PD enzyme activity of 12,379 neonates was screened by a semi-quantitative fluorometric assay and double-checked by a quantitative method to identify a G-6-PD deficient cohort of 333 neonates. Matched with these on birth date, sex and delivery hospital were a G-6-PD normal cohort of 653 neonates. Neonatal jaundice was defined by a peak serum bilirubin (PSB) level of > or = 15 mg/dl. A significant association between G-6-PD deficiency and neonatal jaundice was observed in male but not female neonates. There was an inverse dose-response relation between G-6-PD activity and neonatal jaundice among male neonates. Both hypoxia/asphyxia and maternal hepatitis B surface antigen (HBsAg) carrier status were associated with an increased risk of neonatal jaundice among G-6-PD deficient but not G-6-PD normal male neonates. Based on multiple regression analyses, an additively synergistic effect on PSB level and severe jaundice (PSB > or = 20 mg/dl) was observed for G-6-PD deficiency and maternal HBsAg carrier status.     

Low glucose-6-phosphate dehydrogenase (G-6-PD) activity in red blood cells and susceptibility to copper-induced oxidative damage

The effects of copper on selected characteristics of blood from normal and G-6-PD deficient humans and sheep of the Dorset Strain (which also have comparable red cell G-6-PD activity units as G-6-PD deficient humans) were compared. Both the G-6-PD deficient humans and sheep were found to be markedly more sensitive to several indicators of oxidant stress as measured by increases in methemoglobin levels and decreases in the activity of red cell acetylcholinesterase. These findings indicate that susceptibility to copper-induced oxidative stress is associated with the presence of low red cell G-6-PD activity.     

Genetico-epidemiological and molecular investigation of G-6-PD deficiency in a Brazilian community

This paper reports on a study of the G-6-PD deficiency in Bragan?a Paulista, S?o Paulo State, Brazil. A total of 4,621 male blood donors were investigated over a 36-month period. Of these, 80 had the G-6-PD deficiency. Molecular analysis was performed on 70 unrelated G-6-PD deficients through DNA amplification followed by digestion with restriction enzymes and single strand conformation polymorphism analysis (SSCP). In 98.6%, the G-6-PD A- (202 G<--A) mutation was observed through digestion of exon 4 with Nla III. The presence of an uncommon mutation in exon 9 was also observed through SSCP. No case of the Mediterranean variant was observed. These results indicate that the A- (202G<--A) variant, almost exclusive, was introduced into the community not only by individuals of African origin, but also by European immigrants, mainly Italian, Spanish, and Portuguese. The Italian contribution in terms of the G-6-PD Mediterranean variant was smaller than its contribution to beta thalassemia, probably due to the Northern Italian origin of these immigrants.     

VitB_2、VitE联合应用防治G-6PD缺陷高胆新生儿光疗时溶血

目的探讨VitB2、VitE联合防治光疗致G-6PD缺陷新生儿溶血加重疗效。方法将G-6PD缺陷需光疗治疗的新生儿随机分为VitB2、VitE干预组和对照组,测定比较总胆红素(TB)、血红蛋白(Hb)及光疗指数。结果光疗后对照组Hb下降比干预组显著,光疗指数大(均p<0·01)。结论光疗致G-6PD缺陷患儿溶血加重,VitB2、VitE干预有效。     

An evaluation of the dorset sheep as a predictive animal model for the response of glucose-6-phosphate dehydrogenase-deficient human erythrocytes to a proposed systemic toxic ozone intermediate, methyl oleate ozonide

Erythrocytes of both glucose-6-phosphate dehydrogenase (G-6-PD)-deficient humans and Dorset sheep, an animal model with an erythrocyte G-6-PD deficiency, responded in a dose-dependent manner to the oxidant stress of methyl oleate ozonide (MOO) as measured by decreases in G-6-PD activity, increases in methemoglobin (METHB) levels, and decreases in GSH. However, the human G-6-PD-deficient erythrocytes were considerably more sensitive to the formation of METHB than the sheep erythrocytes while the reverse was the case for the GSH parameter. The results suggest a qualitative difference in the response of sheep erythrocytes and human G-6-PD-deficient erythrocytes to MOO that seriously questions the value of the sheep erythrocyte as a quantitatively accurate predictive model.     

The effect of methyl oleate hydroperoxide,a possible toxic ozone intermediate,on human normal and glucose-6-phosphate dehydrogenase-deficient erythrocytes

Erythrocytes of both normal and glucose-6-phosphate dehydrogenase (G-6-PD)-deficient humans responded in a dose-dependent manner to the oxidant stress of methyl oleate hydroperoxide (MOHP) as measured by decreases in G-6-PD activity, increases in methemoglobin (METHB) levels, and decreases in reduced glutathione (GSH). The G-6-PD-deficient erythrocytes displayed a markedly enhanced sensitivity to MOHP-induced decreases in G-6-PD activity and METHB increases while being less sensitive than normal erythrocytes to changes in GSH levels.