还原型谷胱甘肽治疗G-6-PD缺陷并新生儿高胆红素血症

目的观察还原型谷胱甘肽治疗新生儿红细胞葡萄糖-6-磷酸脱氢酶缺陷性高胆红素血症的疗效。方法对100例因G-6-PD缺陷导致高胆红素血症的新生儿加用还原型谷胱甘肽静滴,并与对照组比较观察疗效。结果治疗组与对照组治疗后胆红素、降幅及光疗时间比较,P〈0.01,差异有非常显著性。结论还原型谷胱甘肽对G-6-PD缺陷性新生儿黄疸具有良好的辅助治疗效果。     

新生儿G6PD缺陷症发生高胆红素血症的围产因素

目的:调查新生儿G-6PD缺陷诱发高胆红素血症的围产因素。方法:将75例G-6PD缺陷并发高胆红素血症的新生儿从籍贯、男女发病率、有关围产因素及遗传病史方面逐一分析和统计。结果:75例G-6PD缺陷新生儿广东籍占60例,男:女发病率为2.75∶1,男性重度缺陷多于女性,诱发高胆的围产因素依次为宫内窘迫与窒息缺氧占32.0%,感染占28.0%,其次是早产儿,其他溶血病、HBV母婴垂直传播,新生儿服用腊梅花、七星茶等中药。结论:缺氧、感染、其他溶血病、HBV母婴垂直传播及腊梅花等中药和某些强氧化剂化学物质均可诱发G-6PD缺陷的新生儿发生高胆红素血症。加强围产保健,预防宫内窘迫及窒息缺氧,防治感染,避免使用药物如VitK3、磺胺、腊梅花等,对预防G-6PD缺陷的新生儿发生高胆红素血症具有十分重要的意义。     

370例新生儿高胆红素血症病因分析

目的：探讨新生儿高胆红素血症在本地区病因分布况。方法：对新生儿高胆红素血症370例进行病因分析。结果：病因前五位的依次为：溶血症、感染、围产因素、肝炎综合症,母乳性黄胆,结论：高胆红素血症的病因,随地区,气候及当地医疗条件,经济状况,社会制度而不同,G－6PD缺陷是本地区高胆红素血症的首发病因,本地区是高发区,应常规筛查及预防。     

88例新生儿高间接胆红素血症临床分析

目的探讨引起新生儿高间接胆红素血症的相关因素。方法将88例新生儿高间接胆红素血症的发病因素进行归纳分析总结。结果88例中,非感染因素所致黄疸占65例,包括因溶血致黄疸13例,围产因素致黄疸17例,母乳性黄疸14例,早产儿1例,不明原因10例。非感染性黄疸占发病率74%。感染因素致黄疸23例,占黄疸发病率26%。讨论新生儿高间接胆红素血症常由多种因素所致,本文资料显示非感染因素占首位,其次为感染因素,多项因素混合和原因不明各占一定比例,非感染因素中我院为围产因素致黄疸为主,其次为母乳性黄疸。所以对缺氧围产不良因素应予以重视,对有高危因素的高胆红素血症患儿需早期诊断,早期防治,对于合并有其他疾病等高危因素即使未达到高胆红素血症程度也需积极采取措施。     

81例新生儿高胆红素血症的病因分析

我院93年1月至94年5月共收治81例高胆红血素血症患儿，占同期住病人的4．9％，81例黄疸病例均用经皮胆红素测定仪监测胆红素动态变化。其中46例接受光疗，光疗最长时间为72小时，最短时间为12小时，胆红素值由“34”降至“15”，平均下降“5－6”。19例轻型患儿进行日光浴。窒息、羊水吸入、早产儿、早产合并硬肿症、ABO溶血、Rh溶血等所引起的黄疸，临床表现轻重不一；针对不同病因，采取相对应的处理措施，可防止黄疸进一步加重，有利于优生优育。     

ABO血型不合溶血病合并G-6-PD缺陷症新生儿高胆11例报告

目的研究ABO血型不合溶血病合并葡萄糖-6-磷酸脱氢酶（G-6-PD）缺陷症的新生儿高胆红素血症（简称高胆）的发病特点。方法选择2007年1月至2010年12月收治母婴ABO血型不合新生儿溶血病合并G-6-PD缺陷症11例（A组）与同期单纯ABO血型不合溶血病80例（B组）新生儿高胆进行分析。结果①91例母婴ABO血型不合溶血病的新生儿中合并G-6-PD缺陷症11例（12.1%）。②新生儿高胆发病日龄：两组均以1～2 d为主（A组9例占81.82%,B组67例占83.75%）;高峰日龄：两组均以2～3d为主（A组9例占81.82%,B组73例占91.25%）;消退时间：两组均在〈6天内。发病日龄、高峰日龄、消退时间经统计学分析各组之间均无显著差异（P〉0.05）。③新生儿贫血程度：两组之间中度贫血无显著差异（P〉0.05）,但轻度贫血及血红蛋白正常者组,经统计学分析差异极显著（P〈0.01）。结论 11例母婴ABO血型不合溶血病合并G-6-PD缺陷症新生儿：①母婴ABO血型不合溶血病中合并有G-6-PD缺陷症的几率为12.1%。②高疸发病日龄基本在1～2d内,高峰日龄基本在2～3d内,消退时间均在〈6天内,与单纯ABO血型不合溶血病基本相同。③新生儿轻度贫血较单纯ABO血型不合溶血病明显,表明溶血会加重,但只要早期诊断、早期干预,预后良好。     

NBNA评价新生儿高胆红素血症分析

目的为了探讨非缺氧性原因所致的新生儿高胆红素血症对新生儿行为神经评估（NBNA）影响。方法我院2001年11月-2006年7月收治的88例足月5—7天龄非缺氧性原因所致的高胆红素血症病例;用NBNA测定来评价治疗前与对照组及其治疗后的差异。结果高胆红素血症对NBNA有影响,尤其在主动肌张力和行为能力。结论NBNA评价是高胆红素血症一种好的早期干预手段。     

新生儿高胆红素血症138例临床分析

目的 探讨新生儿高胆红素血症的病因及治疗方案的选择,降低致残率.方法 对2009年6月～2010年5月我科住院的138例患有高胆红素血症的新生儿临床资料进行回顾性分析.结果 溶血性疾病57例为最常见病因,占41.3%;感染性疾病41例,占29.7%;其中先天性胆道闭锁患儿1例行手术治疗、Rh溶血患儿2例予换血治疗,其余患儿针对病因给予对症处理,治愈率达99.3%.仅有1例发展为胆红素脑病警告期,3个月后发现听力障碍.结论 高胆红素血症是儿科的常见病,虽然大都预后良好,但也有进展成核黄疸导致死亡或严重后遗症的发生,对其病因分析和治疗方案的选择有利于降低该病的致残率.     

新生儿高胆红素血症118例远期随访

目的 使新生儿期血清胆红素水平预后的影响得到重视.方法 对118例新生儿高胆红素血症患儿在5～10岁时进行智商(IQ)、听力以及神经系统进行随访检查.结果 IQ异常30例(25.4 %),听力异常23例(19.5%),神经系统异常5例(4.2%).约50%异常者血清胆红素峰值<340 μmol/L.结论 单凭血清胆红素水平并不能确定预后.对所有高胆新生儿均应积极治疗,以尽量减少后遗症的发生.     

武汉地区92例新生儿高胆红素血症临床分析

本文收集了９２例新生儿高胆红素血症病例，临床资料分析发现：造成该病的主要原因是合并感染（占６３％），而早产儿产生黄疸最为严重，极易产生核黄疸，病死率高达３％。预防核黄疸的关键是在黄疸出现早期及时施行光疗。     

Biochemische Eigenschaften einer neuen Variante des Glucose-6-phosphatdehydrogenase (G-6-PD)-Mangels mit Favismus: G-6-PD Bielefeld

Zusammenfassung In den Erythrozyten einer deutschen Familie wurde eine Variante des G-6-PD-Mangels gefunden, die mit Favismus verbunden ist. Das Enzym aus den Erythrozyten eines Hemizygoten wurde partiell gereinigt und biochemisch characterisiert. Es zeigte eine normale elektrophoretische Wanderungsgeschwindigkeit, normale Thermostabilität und eine flache pH-Abhängigkeitskurve. Die Michaelis-Menten-Konstante für G-6-P war erniedrigt, die für NADP normal. Die Hemmbarkeit durch NADPH war herabgesetzt. Substratanaloge (2-Desoxy G-6-P, Gal-6-P und Deamino-NADP) wurden vom mutierten Enzym vermehrt utilisiert.Diese biochemischen Parameter können das relativ gutartige klinische Bild erklären.Mit Unterstützung durch die Deutsche Forschungsgemeinschaft     

云浮地区2183例新生儿G-6-PD缺乏症的结果分析

目的 探讨云浮地区新生儿葡萄糖-6-磷酸脱氢酶（G-6-PD）缺乏症的患病情况。方法 采用G-6-PD/6-PGD定量比值测定法检测2 183例新生儿的红细胞G-6-PD活性。结果 本地区总患病率为7.19%（157/2183）,其中男性患病率为10.4%,女性为2.89%。结论 本地区为新生儿G-6-PD缺乏症的高发区,男性患者明显高于女性。     

Glucose-6-Phosphate Dehydrogenase Deficiency and Diabetes Mellitus with Severe Retinal Complications in a Sardinian Population,Italy

Background: Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is one of the most common human genetic abnormalities, with a high prevalence in Sardinia, Italy. Evidence indicates that G6PD-deficient patients are protected against vascular disease. Little is known about the relationship between G6PD deficiency and diabetes mellitus. The purpose of this study was to compare G6PD deficiency prevalence in Sardinian diabetic men with severe retinal vascular complications and in age-matched non-diabetic controls and ascertain whether G6PD deficiency may offer protection against this vascular disorder.Methods: Erythrocyte G6PD activity was determined using a quantitative assay in 390 diabetic men with proliferative diabetic retinopathy (PDR) and 390 male non-diabetic controls, both aged ≥50 years. Conditional logistic regression models were used to investigate the association between G6PD deficiency and diabetes with severe retinal complications.Results: G6PD deficiency was found in 21 (5.4 %) diabetic patients and 33 (8.5 %) controls (P=0.09). In a univariate conditional logistic regression model, G6PD deficiency showed a trend for protection against diabetes with PDR, but the odds ratio (OR) fell short of statistical significance (OR=0.6, 95% confidence interval=0.35-1.08, P=0.09). In multivariate conditional logistic regression models, including as covariates G6PD deficiency, plasma glucose, and systemic hypertension or systolic or diastolic blood pressure, G6PD deficiency showed no statistically significant protection against diabetes with PDR.Conclusions: The prevalence of G6PD deficiency in diabetic men with PDR was lower than in age-matched non-diabetic controls. G6PD deficiency showed a trend for protection against diabetes with PDR, but results were not statistically significant.     

人类葡萄糖-6-磷酸脱氢酶的分子生物学研究进展

葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase,G6PD)缺乏症作为一种全球范围内最常见的酶缺乏症之一,受到研究者们的广泛关注.G6PD催化磷酸戊糖途径的第一步,由此酶催化生成的NADPH+H+对于对抗氧化性损伤是极其重要的.本文将从G6PD的结构与功能,SNP的研究与单体型的建立,抗疟疾选择优势与新的G6PD基因突变检测方法这几方面的研究进展综述如下.     

Human hair follicles may be used for population screening of heterozygotes of glucose-6-phosphate dehydrogenase deficiency

The carrier status for glucose-6-phosphate dehydrogenase deficiency can still be detected with the use of hair follicles after a period up to 10–14 days after plucking, even under conditions of temperature and humidity that are encountered in tropical countries, where the disease is most common. Furthermore, it is shown that the hair colour or age of the donor has no influence on the enzyme activity. As a consequence, the hair follicle is indeed suitable for screening in rural areas since mailing to existing medical centres is possible.     

On the causation of diabetes mellitus (effect of saliva on blood glucose levels in oral glucose tolerance tests)

17 male patients, aged 25 – 58, completed four sets of blood glucose estimations, fasting at 30 minutes, 60 minutes and 120 minutes after a 50 g. oral glucose load. The study was so designed that saliva was added to the glucose meal in one set of observations and excluded from the other. Results based on 136 observations on blood glucose showed that at the time intervals, namely, 30 minutes and 60 minutes, the blood glucose levels were significantly lower when the glucose meal was admixed with saliva than when it was excluded, although there was no significant difference in the mean fasting levels. The difference at 120 minutes did not reach 1% level of significance. The differences in blood glucose levels may be due to the saliva retarding gastric emptying. In the case of meals with no saliva, a rapid “dumping” of glucose takes place as a result of increased gastric emptying rate and this may give rise to sucrose-induced hyperinsulinism, which, if prolonged over extended periods, may result in insulin-resistance. The slower rise of blood glucose after meals admixed with saliva will not have this effect because insulin-release and glycaemia would go hand in hand. This may possibly explain the increased incidence-rates of diabetes mellitus in individuals used to “meal-scamping” as noted in the companion study (1), as compared with “meal-chewers”.It has been proposed that a sudden and rapid rise of insulin levels in the blood, whether due to a sudden hyperglycaemia due to rapid gastric emptying and resultant “dumping” of sucrose, or due to secretin-release, may give rise to insulin anti-body production (1), setting up the vicious cycle — hurried meals — rapid gastric emptying accompanied by hyperglycaemia and hyperchlorhydria (2,3) — secretin-release (4) — hyperinsulinism (5,6) — hypoglycaemia, persistence of insulin — insulin resistance and insulin antibodies (7,8) — islet over-activity and islet-cell exhaustion (7–9).Yudkin et al (10) observed that out of their 13 subjects, only 6 showed hyperinsulinism after a sucrose meal. They did not find out the reasons for this susceptibility of only some persons to develop hyperglycaemia and hyperinsulinism after a high sucrose diet. It has been propsed by me (1,11) that this susceptibility may be due to the pattern of eating: persons who masticate their food well, so that a mucus-rich saliva mixes with the meal, do not develop this and those who do not masticate their food well, so that saliva does not mix with the meal, develop hyperglycaemia and resultant hyperinsulinism to counteract the high glucose levels, because swallowing a mucus-rich saliva with the meals delays gastric emptying (12).This paper is an attempt to test the truth of this supposition.