葡萄糖-6-磷酸脱氢酶测定方法及其与糖尿病和糖化血红蛋白关系的研究进展

糖尿病是严重危害人类健康的常见病、多发病。氧化应激损伤在糖尿病的发生和病理发展过程中起重要作用[1]。还原型谷胱甘肽(GSH)是体内的重要抗氧化物质,还原型辅酶Ⅱ(NADPH)和氢离子浓度(H+)对维持细胞中GSH的正常含量起重要作用。葡萄糖-6-磷酸脱氢酶(G-6-PD)是催化磷酸戊糖途径第一步的关键酶,其主要代谢产物是NADPH和H+。因此,研究G-6-PD与糖尿病发生和发展的关系近年来备受关     

葡萄糖-6-磷酸脱氢酶两种测定方法的比较

目的对两种检测全血中红细胞葡萄糖-6-磷酸脱氢酶(G6PD)活性的方法进行比较分析,观察其优、缺点和相关性。方法每天分别用两种方法对25例患者标本进行检测,连续检测3d,共75例,并对检测结果进行比较分析,观察其相关性。结果手工定量比值法有2例判为轻度缺乏的标本,仪器紫外速率法的结果为186U/L和251 U/L;手工定量比值法有4例重度缺乏的标本,仪器紫外速率法的结果均小于150U/L;其余手工定量比值法正常(比值大于1.0)的标本,仪器紫外速率法的结果均大于500U/L。结论两种方法结果一致,相关性较好,但各有优缺点。     

急性白血病患儿葡萄糖-6-磷酸脱氢酶活性的探讨

白血病是一组造血干细胞恶性克隆性疾病,可存在多种红细胞酶和同工酶的异常.我们检测了82例急性白血病患儿红细胞葡萄糖-6-磷酸脱氢酶（G6PD）活性,并探讨其临床意义,现报道如下.     

溶血指数在测定葡萄糖-6-磷酸脱氢酶活性中的应用

目的应用血清信息中的溶血指数计算出每克血红蛋白的葡萄糖-6-磷酸脱氢酶(G6PD)的活性。方法在生化仪上测定压积红细胞G6PD的活性,结合溶血指数的测定以及其和血红蛋白含量的显著相关关系,计算出G6PD的活性浓度,即每克血红蛋白的G6PD活性,并将G6PD缺乏阳性率和G6PD/6磷酸葡萄糖脱氢酶(6PGD)比值法进行比较。结果利用溶血指数计算每克血红蛋白中G6PD活性浓度法在G6PD缺乏的检出率与G6PD/6PGD比值法差异无统计学意义,两种方法检出能力一致。结论利用溶血指数计算G6PD的活性浓度操作简单方便,无需洗涤压积红细胞,且无需测定6PGD和血红蛋白,在G6PD缺乏的筛查中有一定的意义。     

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。     

贵州三都水族居民葡萄糖-6-磷酸脱氢酶缺乏症基因突变研究

为了了解贵州省少数民族居民葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase，G6PD)缺乏症的发病率、基因突变类型特点及分布特征，进一步从分子水平揭示G6PD基因突变的异质性，对贵州省三都水族自治县1090名当地水族居民采用噻唑蓝定性法、G6PD／6PGD活性比值法进行G6PD缺乏症的筛查，再经错配引物介导的聚合酶链反应/限制性酶切分析法检测中国人中最常见的3种G6PD基因突变型：1376G→T、1388G→A、95A→G。结果表明：在受检的1090人中，共检出G6PD缺乏症98例，检出率8．99％，在G6PD缺乏症中检出最常见的3种G6PD基因突变型：1376G→T24例；1388G→A12例；95A→G9例；并在国内首次检出1376G→T、95A→G复合型突变1例。1376G→T突变频率为0．245；1388G→A突变频率为0．122；95A→G突变频率为0．092。结论：1376G→T、1388G→A、95A→G为贵州省三都水族居民的常见G6PD突变型，这个结果提示贵州三都水族与中国其它少数民族在起源上可能有共同的渊源。     

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。     

试纸法测定红细胞葡萄糖—6—磷酸脱氢酶活性

国内大多数基层医院常采用高铁血红蛋白还原试验,作为红细胞葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏的过筛试验.该法操作较复杂,时间长,用血量多,结果不稳定,且假阳性率较高.而准确性较高的四氮唑蓝定量法[1]和荧光斑点法,操作复杂,技术要求高,多数医院难以推广.我院采用G-6-PD试纸法[2、3],取得了满意结果.现报道如下.     

新生儿红细胞葡萄糖-6-磷酸脱氢酶缺陷176例分析

红细胞葡萄糖 - 6 -磷酸脱氢酶 (G- 6 - PD)缺陷症是一种常见的不完全显性伴性遗传病 ,主要表现为溶血性贫血和由此产生的高胆红素血症。该病在我区多见 ,占新生儿病理性黄疸比例较大。 1997年 1月～ 2 0 0 1年 1月 ,我院收治 G- 6 - PD缺陷新生儿 176例 ,报告如下。1　临床资料1.1　一般资料　 176例均为我院儿科住院的新生儿 ,经G- 6 - PD定性检测确诊为 G- 6 - PD缺陷。其血清胆红素高于2 0 5μmol/ L者诊断为高胆红素血症 ,其中男婴 10 4例 ,女婴72例 ,男∶女 =1.4 4∶ 1,男婴发病率高于女婴。1.2　合并症　 176例中无合并症者 12…     

白细胞去除对葡萄糖-6-磷酸脱氢酶活性测定的影响

目的探讨全血标本中wBC对RBC的葡萄糖一6一磷酸脱氢酶（G6PD）活性检测的影响,规范G6PD测定标本的前处理过程。方法选择2010年9月8日至10月27日因高胆红素血症于四川大学华西第二医院门诊及住院治疗的新生儿49例为研究对象。采集其全血样本4mL,平均分为2份,分别按照是否洗涤WBC分为洗涤组（n=49）和未洗涤组（n=49）。采用7600—010全自动生化分析仪分别测定两组血样的RBCG6PD活性,wBCG6PD活性以及RBC溶血液中的WBC含量,并根据检测结果考察血样中wBCG6PD活性对RBCG6PD活性测定的影响（本研究遵循的程序符合本院人体试验委员会所制定的伦理学标准,得到该伦理会批准,征得受试对象本人的知情同意,并与之签订临床研究知情同意书）。结果未洗涤组血样的RBCG6PD活性中位数[1096U／L,（137～2512）U／L]明显高于洗涤组为[861U／L,（94～2357）U／L],且差异有统计学意义（Z=-6．093,P〈0．01）;两组RBCG6PD活性呈正相关关系性（r=0．963,P〈O．01）。将RBCG6PD纳入回归方程：y=0．895z-83．365,y为洗涤组RBCG6PD的原始结果,z为未洗涤组RBCG6PD的原始结果,进行线性回归分析的结果显示,洗涤WBC前、后,RBCG6PD活性的偏回归值（6）分别为0．895与-83．365,相关关系密切（r2=0．927,df=47,F=592．797;P〈0．01）。结论全血标本中WBC的存在,使RBCG6PD活性检测值偏高,可能造成处于临界值的G6PD缺乏症漏检。临床进行血液标本RBCG6PD活性测定时,应尽可能清除WBC,为临床诊断提供可靠数据。     

Complete Deficiency of Leukocyte Glucose-6-Phosphate Dehydrogenase with Defective Bactericidal Activity

A 52 yr old Caucasian female (F. E.) had hemolytic anemia, a leukemoid reaction, and fatal sepsis due to Escherichia coli. Her leukocytes ingested bacteria normally but did not kill catalase positive Staphylococcus aureus, Escherichia coli, and Serratia marcescens. An H(2)O(2)-producing bacterium, Streptococcus faecalis, was killed normally. Granule myeloperoxidase, acid and alkaline phosphatase, and beta glucuronidase activities were normal, and these enzymes shifted normally to the phagocyte vacuole (light and electron microscopy). Intravacuolar reduction of nitroblue tetrazolium did not occur. Moreover, only minimal quantities of H(2)O(2) were generated, and the hexose monophosphate shunt (HMPS) was not stimulated during phagocytosis.These observations suggested the diagnosis of chronic granulomatous disease. However, in contrast to control and chronic granulomatous disease leukocytes, glucose-6-phosphate dehydrogenase activity was completely absent in F. E. leukocytes whereas NADH oxidase and NADPH oxidase activities were both normal. Unlike chronic granulomatous disease, methylene blue did not stimulate the hexose monophosphate shunt in F. E. cells. Thus, F. E. and chronic granulomatous disease leukocytes appear to share certain metabolic and bactericidal defects, but the metabolic basis of the abnormality differs. Chronic granulomatous disease cells lack oxidase activity which produces H(2)O(2); F. E. cells had normal levels of oxidase activity but failed to produce NADPH due to complete glucose-6-phosphate dehydrogenase deficiency. These data indicate that a complete absence of leukocyte glucose-6-phosphate dehydrogenase with defective hexose monophosphate shunt activity is associated with low H(2)O(2) production and inadequate bactericidal activity, and further suggest an important role for NADPH in the production of H(2)O(2) in human granulocytes.     

Glucose-6-Phosphate Dehydrogenase Status and Risk of Hemolysis in Plasmodium falciparum-Infected African Children Receiving Single-Dose Primaquine

Glucose-6-phosphate dehydrogenase (G6PD) enzyme function and genotype were determined in Ugandan children with uncomplicated falciparum malaria enrolled in a primaquine trial after exclusion of severe G6PD deficiency by fluorescent spot test. G6PD A− heterozygotes and hemizygotes/homozygotes experienced dose-dependent lower hemoglobin concentrations after treatment. No severe anemia was observed.     

Should Blood Donors Be Routinely Screened for Glucose-6-Phosphate Dehydrogenase Deficiency? A Systematic Review of Clinical Studies Focusing on Patients Transfused With Glucose-6-Phosphate Dehydrogenase–Deficient Red Cells

The risk factors associated with the use of glucose-6-phosphate dehydrogenase (G6PD)–deficient blood in transfusion have not yet been well established. Therefore, the aim of this review was to evaluate whether whole blood from healthy G6PD-deficient donors is safe to use for transfusion. The study undertook a systematic review of English articles indexed in COCHRANE, MEDLINE, EMBASE, and CINHAL, with no date restriction up to March 2013, as well as those included in articles' reference lists and those included in Google Scholar. Inclusion criteria required that studies be randomized controlled trials, case controls, case reports, or prospective clinical series. Data were extracted following the Preferred Reporting Items for Systematic Reviews using a previously piloted form, which included fields for study design, population under study, sample size, study results, limitations, conclusions, and recommendations. The initial search identified 663 potentially relevant articles, of which only 13 studies met the inclusion criteria. The reported effects of G6PD-deficient transfused blood on neonates and children appear to be more deleterious than effects reported on adult patients. In most cases, the rise of total serum bilirubin was abnormal in infants transfused with G6PD-deficient blood from 6 hours up to 60 hours after transfusion. All studies on neonates and children, except one, recommended a routine screening for G6PD deficiency for this at-risk subpopulation because their immature hepatic function potentially makes them less able to handle any excess bilirubin load. It is difficult to make firm clinical conclusions and recommendations given the equivocal results, the lack of standardized evaluation methods to categorize red blood cell units as G6PD deficient (some of which are questionable), and the limited methodological quality and low quality of evidence. Notwithstanding these limitations, based on our review of the available literature, there is little to suggest that G6PD-deficient individuals should be excluded from donating red blood cells, although transfusions of such blood may potentially have negative impacts on premature neonates or patients who need repeated transfusions, and thus, for this group, screening for G6PD deficiency may be appropriate.     

武汉地区葡萄糖-6-磷酸脱氢酶缺乏症患者基因突变分析

目的:探讨武汉地区葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症患者的基因突变特征。方法:对湖北省妇幼保健院1 321例筛查阳性的新生儿及门诊患者进行G6PD基因检测,首选多色探针熔解曲线法(MMCA)检测中国人群常见的12种G6PD基因突变,对于MMCA法未检出者,分析其酶活性和临床信息,必要时进行测序检测。结果:在1 321例受检者中共检出768例突变,检出率58.1%。共检出18种G6PD基因变异类型,包括c.1388G>A、c.1376G>T、c.95G>A、c.1024C>T、c.871G>A、c.392G>T、c.487 G>A、c.1360C>T、c.1004C>A、c.517T>C、c.592C>T、c.94C>G、c.152C>T、c.320A>G、c.1028A>G、c.1316G>A、c.1327G>C和c.1376G>C,其中男性半合子683例,女性纯合子3例,女性杂合子80例,女性复杂杂合2例。结论:本研究共检出18种G6PD基因变异类型,并首次在中国人群中报...     

深圳宝安区孕期夫妇红细胞葡萄糖-6-磷酸脱氢酶缺乏现状情况调查

目的 了解宝安区孕期夫妇红细胞葡萄糖-6-磷酸脱氢酶(G6PD)缺乏的现状,以便引起社会的重视。方法 收集2013年2月～11月来深圳市宝安区人民医院产前门诊进行孕检的宝安区育龄夫妇共6 574例,其中男性3 192例,女性3 382例,分别采集静脉血用EDTA抗凝混匀,采用改良红细胞葡萄糖-6-磷酸脱氢酶定量比值法测定抗凝全血中G6PD/6PGD的比值,以比值＜1.0判为G6PD缺乏。结果 3 192例男性受检者中,G6PD缺乏的176例,3 382例孕妇受检者中检出135例,检出率分别是5.51%和3.99%,总检出率为4.73%(311/6 574),G6PD缺乏率男性高于孕妇,G6PD缺乏男:女为1.30:1(176:135),两者之间差异有统计学意义(χ²=7.16,P＜0.05)。结论 宝安区孕期夫妇G6PD缺乏有较高的发生率,男性明显高于女性,应引起社会关注。孕期夫妇孕检时应提倡双方G6PD活性筛查,这对优生优育和保健母婴身体健康有着重要的意义。     

Glucose-6-Phosphate Dehydrogenase (G-6-PD) Hamburg, a New Variant with Chronic Nonspherocytic Haemolytic Anaemia

Abstract. A new variant of G-6-PD with chronic nonspherocytic haemolytic anaemia and very low activity, named G-6-PD Hamburg, was partially purified and biochemically characterized. It was found to have very high lability, an unusually high Km for G-6-P (2000 μM), increased utilization rates for 2-desoxy G-6-P (133%) and galactose-6-phosphate (87%) and an abnormal pH-activity curve. The electrophoretic mobility seemed to be normal. The leukocytes also revealed diminished G-6-PD activity. No impairment of bactericidal activity of neutrophilic granulocytes, as shown by a normal nitroblue tetrazolium reduction, could be demonstrated.