G—6—PD缺陷与新生儿高胆,婴幼儿贫血及婴儿肝炎综合征关系的调查

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疸后遗症患儿。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％（３６／１０     

壮族新生儿红细胞酶缺乏症与地中海贫血关系探讨

本文用红细胞丙酮酸激酶（ＰＫ）定量方法,测定６６０例壮族新生儿脐血中ＰＫ活性,同时进行Ｇ－６－ＰＤ测定及血红蛋白电泳,以确定壮族新生儿ＰＫ活性正常值,了解ＰＫ缺陷发生率及其与Ｇ－６－ＰＤ缺陷、地中海贫血等异常血红蛋白病有无复合现象及地区重叠。６６０例ＰＫ均值为１０．３±３．１ＩＵ／ｇＨｂ,与国内外文献报告接近,提示无民族差异。ＰＫ活性降低发生率为１．２％,较国内报告略低。测出Ｇ－６－ＰＫ缺陷１０３例,发生率１５．６％,其中纯合子６５例,占６３％。血红蛋白电泳结果,检出α－地中海贫血１７１例,发生率１０．８％,Ｇ－６－ＰＤ缺陷复合α－地中海贫血１７例,发生率２．６％,未见ＰＫ活性低者合并Ｇ－６－ＰＤ缺陷或地中海贫血。未见Ｇ－６－ＰＤ缺陷复合α－地中海贫血合并有ＰＫ缺陷。说明本地区不是ＰＫ缺陷高发区。Ｇ－６－ＰＤ缺陷与地中海贫血有地区重叠,但ＰＫ缺陷与Ｇ－６－ＰＤ缺陷或地中海贫血无地区重叠。     

干血纸片法用于葡萄糖-6-磷酸脱氢酶基因突变型的检测

目的 了解广东人葡萄糖－６－磷酸脱氢酶（Ｇ－６－ＰＤ）缺陷的基因突变型。探讨干血纸片法用于基因突变型诊断的效果。方法 采用专用滤纸干血斑，运用５对特异性引物进行ＤＮＡ直接扩增、结合限制性内切酶分析技术对８７例Ｇ－６－ＰＤ缺陷的住院患儿进行检测。结果 ８７例患儿中３０例（３５％）为Ｇ１３７６Ｔ，２８例（３２％）为Ｇ１３８８Ａ，６例（７％）为Ａ９５Ｇ，１例（１％）为Ｇ３９２Ｔ，未检出Ｃ１０２４Ｔ，尚有     

前炎症细胞因子及IgG亚类在支气管哮喘发病中的作用

目的：探讨前炎症细胞因子（ＰＩＣ）及ＩｇＧ亚类在儿童支气管哮喘发病中的作用。方法：采用ＥＬＩＳＡ方法检测哮喘不同病期（发作期３５例,稳定期１８例）和２８例正常对照组血清及外周血单个核细胞（ＰＢＭＣ）诱生ＩＬ－６、ＩＬ－８、ＴＮＦ－α水平和血清ＩｇＧ亚类浓度。结果：哮喘发作期血清ＩＬ－６、ＩＬ－８、ＴＮＦ－α显著升高,随病情缓解渐降低。发作期哮喘ＩｇＧ亚类缺陷检出率为２８．５７％（１０／３５）,以Ｉ     

红细胞6—磷酸葡萄糖脱氢酶缺陷症50例分析(摘要)

我院儿科１９７８年至１９８７年收治５０例，占同期住院１３２８５人次的０．３８％，溶血性贫血７７人次的６４．９４％。年龄最小为出生３０小时，最大１１岁，５岁以下最多见４６例（９２％），男多于女，男：女＝１６．７：１。５０例中分型以蚕豆病多见３２例（６４％），其次药物、感染性溶血１０例（２０％），新生儿Ｇ－６－ＰＤ缺陷性溶血７例（１４％），非球形红细胞溶血性贫血Ｉ型１例。５０例中７例有家族史，２例有过去史。临床表现全部病例均有贫血、黄疸、血红蛋白尿，发烧２８例（６５．２４％），少数尚有疲乏、腹痛、呕吐、烦燥，肝大２０例（７１．４％），脾大仅２例。实验室检查．极重度贫血９例（１８％），重度贫血３２例（６４％），中度贫血５例（１０％），４例血红蛋白在１０克％以上皆为新生儿，网织红细胞＞５％２９例（５８％），１．５％～５％１５例（３０％），０．５％～１．５％６例（１２％）。白细胞计数＜１０×１０９／Ｌ５例（１０％），１０×１０９／Ｌ～２０×１０９／Ｌ２９例（５８），２０×１９９／Ｌ～３０×１０９／Ｌ９例（１８％），＞３０×１０９／Ｌ。７例（１４％）。     

血液学参数的变化与红细胞葡萄糖-6-磷酸脱氢酶活性关系的研究

本文报道１６４例住院的高胆红素血症患儿（贫血６６例，无贫血９８例）进行Ｇ－６－ＰＤ活性和几个血液学参数的测定，并作了相关性、回归分析和显著性检验。结果：Ｇ－６－ＰＤ活性与白细胞、网织红细胞、血小板数、血清钠及微量元素锌、硒含量呈正相关；与血红蛋白、红细胞和红细胞压积呈负相关，两者均有显著性意义（Ｐ＜０．０５～０．０１）。而与血清钾、氯、钙、白蛋白、球蛋白及胆红素含量无相关性。通过本实验结果分析，作者认为高胆红素血症患儿，伴有贫血或溶血时，由于骨髓增生，网织红细胞和年幼的红细胞数量增加，或者伴随感染时因白细胞明显增加等因素，致Ｇ－６－ＰＤ活性含量升高而掩盖了Ｇ－６－ＰＤ缺陷。因此，评价Ｇ－６－ＰＤ活性时，除了考虑以上几个血液学参数影响造成的误差，对贫血患儿的血样常规先行调整血浆和血细胞的比例外，白细胞增加者若能进行离心除去白细胞层后进行测定；或待感染控制后，有贫血者待贫血改善后；有溶血者待溶血停止后２—４个月左右，再复查Ｇ－６－ＰＤ活性，对Ｇ－６－ＰＤ缺陷才能作出正确的诊断。     

新生儿红细胞G─6─PD缺陷183例

本文对１８３例新生儿红细胞Ｇ－６－ＰＤ缺陷进行分析及部分随访，表明本地区Ｇ－６－ＰＤ缺陷是高胆红素血症的重要原因（高胆红素血症的Ｇ－６－ＰＤ缺陷率为６２．０％）。认为，凡不明原因的新生儿高胆红素血症无论贫血与否均应想到本病，尤其是男婴。高度怀疑本病者如第１次Ｇ－６－ＰＤ活性测定不低，还应复查。窒息、缺氧、感染等可能为诱发Ｇ－６－ＰＤ缺陷的诱因．本文１８３例中无１例发生胆红素脑病。     

自体外周血造血干细胞移植治疗小儿白血病,恶性肿瘤的临床研究

为探讨预处理方案对小儿自体外周血造血干细胞移植（Ａｕｔｏ－ＰＢＳＣＴ）疗效的影响，对１４例恶性肿瘤患儿（急性淋巴细胞白血病７例、急性髓系白血病４例、恶性淋巴瘤２例、神经母细胞瘤１例），在其完全缓解６个月后进行了Ａｕｔｏ－ＰＢＳＣＴ治疗。中位随访时间４．８年（３～７年）。结果无病生存率为５７％（８／１４），死亡率为４３％（６／１４）。初步资料结果表明，预处理方案采用全身照射（７．０±０．５Ｇｙ）联合３或４种化疗药物要比联合１～２或５种化疗药物为好，但在为每个患儿进行移植前制订预处理方案时，应注意个体化。     

病毒性肝炎伴随G—6—PD缺乏率原因探讨

本院１９９２．１￣１９９６．１２儿童肝炎住院病例２３２例，均作出病原学诊断。Ｇ－６－ＰＤ检测用酶活性测定法，按陈顺存介绍的方法进行。≤１．２Ｉｕ／ｇＨｂ为显著缺乏，１．３￣３．２Ｉｕ／ｇＨｂ为中间值，３．３￣７．０Ｉｕ／ｇＨｂ为正常。２３２例肝炎患者，８８例Ｇ－６－ＰＤ缺乏，Ｇ－６－ＰＤ缺乏率３５．７７％，男性缺乏率４４．１２％（７５／１７０），女性缺乏率１２．９０％（８／６２）。８３例缺乏者中显     

红细胞6—磷酸葡萄糖脱氢酶缺陷症50例分析（摘要）

我院儿科１９７８年至１９８７年收治５０例，占同期住院１３２８５人次的０．３８％，溶血性贫血７７人次的６４．９４％。年龄最小为出生３０小时，最大１１岁，５岁以下最多见４６例（９２％），男多于女，男：女＝１６．７：１。５０例中分型以蚕豆病多见３２例（６４％），其次药物、感染性溶血１０例（２０％），新生儿Ｇ－６－ＰＤ缺陷性溶血７例（１４％），非球形红细胞溶血性贫血Ｉ型１例。５０例中７例有家族史，２例有过     

广西南宁地区G6PD基因突变与新生儿黄疸的关系

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］     

广西恭城县瑶族和汉族居民G-6-PD缺乏症发病率及基因频率的调查

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。     

遗传因素在广西新生儿高胆红素血症中的作用

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。     

Genetic polymorphisms in Thai neonates with hyperbilirubinemia

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.     

Neonatal screening for Glucose-6-Phosphate dehydrogenase deficiency

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.     

Relationship between Exposure to Icterogenic Agents, Glucose-6-Phosphate Dehydrogenase Deficiency and Neonatal Jaundice in Nigeria

ABSTRACT. In a study of the relationship between exposure to icterogenic agents, G-6-PD deficiency and severe neonatal jaundice (NNJ) (serum bilirubin 3±205 umol/I) in 234 Nigerian term male neonates, 106 infants with severe NNJ and 128 controls, it was found that 62.3 % of the jaundiced infants and 13.3 % of the infants without NNJ were G6PD deficient (p<0.01). The proportion of infants exposed to icterogenic agents in the two groups was very similar (p<0.5). There was a strong association between exposure to icterogenic agents and NNJ in 83 G6PD deficient infants (p<0.01), but there was no association between exposure to icterogenic agents and NNJ in the whole group of 234 infants or in 151 infants with normal G6PD status. It is concluded that there is an association between genetically determined G-6-PD deficiency and exogenous agents in causing severe NNJ in Nigerian infants.     

Neonatal screening for glucose-6-phosphate dehydrogenase deficiency: sex distribution.

Eight hundred and six newborn infants at high risk for glucose-6-phosphate dehydrogenase (G-6-PD) deficiency were screened; 30.2% of the boys and 10.4% of the girls had severe G-6-PD deficiency. Surprisingly, 14% of the enzyme deficient girls had a father from a low risk ethnic group. Girls of high risk mothers should be screened for G-6-PD deficiency regardless of paternal origin.     

Relationship between exposure to icterogenic agents, glucose-6-phosphate dehydrogenase deficiency and neonatal jaundice in Nigeria

In a study of the relationship between exposure to icterogenic agents, G-6-PD deficiency and severe neonatal jaundice (NNJ) (serum bilirubin greater than or equal to 205 mumol/l) in 234 Nigerian term male neonates, 106 infants with severe NNJ and 128 controls, it was found that 62.3% of the jaundiced infants and 13.3% of the infants without NNJ were G6PD deficient (p less than 0.01). The proportion of infants exposed to icterogenic agents in the two groups was very similar (p greater than or equal to 0.5). There was a strong association between exposure to icterogenic agents and NNJ in 83 G6PD deficient infants (p less than 0.01), but there was no association between exposure to icterogenic agents and NNJ in the whole group of 234 infants or in 151 infants with normal G6PD status. It is concluded that there is an association between genetically determined G-6-PD deficiency and exogenous agents in causing severe NNJ in Nigerian infants.     

β-Thalassemia trait and hyperbilirubinemia in G-6-PD deficient newborn infants

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.     

小儿溶血性贫血49例临床分析

目的分析49例溶血性贫血患儿的病因及治疗。方法对2006年1月-2010年1月期间在我院住院的49例溶血性贫血患儿的临床特点进行回顾性分析。结果本地区溶血性贫血以G-6-PD缺乏症最多(59%),自身免疫性溶血性贫血次之(22%),符合小儿溶血性贫血多与红细胞内在因素异常有关这一特点。结论本组病例中G-6-PD缺乏是引起溶血性贫血的主要病因,疗效好。对自身免疫性溶血性贫血肾上腺糖皮质激素是首选药物,输血时应严格配血。