贵州省17例葡萄糖-6-磷酸脱氢酶缺乏症患者临床特征和致病基因突变分析

目的 探讨中国贵州省17例葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症患者的临床特征及分子遗传特征.方法 分析患者的临床特征,收集患者及其部分母亲外周血,提取基因组DNA,针对C6PD基因所有编码外显子及外显子和内含子交界处进行PCR扩增测序.结果 患者的临床表型多样,如表现为蚕豆病、药物性溶血、新生儿高胆红素血症、感染性溶血及慢性非球形红细胞性溶血性贫血等.3例患者有伴发病,分别为α地中海贫血、急性髓系白血病M2型、新生儿肛门膜状狭窄.基因分析显示G1376T、G1388A及A95G是最常见的3种G6PD基因突变类型.G1376T、G1388A及A95G占总突变的发生率为82.4％.2例患者仅有c.1311C＞T,IVS11 nt93T＞C变异.世界范围内首次发现1例贵州省榕江县患者有一新的c.G1388A,IVS10-10 T＞G基因复合变异.1例贵州省贵阳市患者母亲为c.1376 G ＞T,1311C ＞T,IVS11 nt93 T＞C基因复合变异携带者.结论 G6PD缺乏症具有一个广泛的临床异质性.世界范围内首次发现G6PD缺乏症患者中存在一新的G6PD基因复合变异单倍型c.G1388A,IVS10-10 T＞G,丰富了G6PD基因多态谱.贵州省患者可能存在G6PD基因复合变异单倍型c.1376 G＞T,1311C＞T,IVS11 nt 93 T＞C.     

茵栀黄口服液与金银花提取物对葡萄糖-6-磷酸脱氢酶缺乏大鼠的溶血影响及退黄疗效分析

目的 研究不同剂量茵栀黄口服液与不同浓度金银花提取物对葡萄糖-6-磷酸脱氢酶（G6PD）缺乏大鼠的溶血影响和退黄疗效比较。方法 将实验用雄性Wistar大鼠随机分为10组,每组10只,分别为正常组（不予任何处理）、阴性对照组（给予生理盐水）、阳性对照组（给予伯氨喹啉）、2倍剂量茵栀黄组（给予13.4 mL/kg茵栀黄口服液）、4倍剂量茵栀黄组（给予26.8 mL/kg茵栀黄口服液）、8倍剂量茵栀黄组（给予53.6 mL/kg茵栀黄口服液）、正常浓度金银花组（给予剂量为6.7 mL/kg,浓度为8 mg/mL金银花提取物）、中浓度金银花组（给予剂量为6.7 mL/kg,浓度为40 mg/mL金银花提取物）、高浓度金银花组（给予剂量为6.7 mL/kg,浓度为80 mg/mL金银花提取物）、极高浓度金银花组（给予剂量为6.7 mL/kg,浓度为160 mg/mL金银花提取物）。除正常组外,其余各组通过乙酰苯肼制造G6PD缺乏大鼠模型,通过瑞氏染色观察造模前后大鼠红细胞形态变化;造模后各组给予相应药物进行处理,用血常规及血生化检测仪检测相关溶血指标,以及血总胆红素和间接胆红素水平。结果 G6PD缺乏大鼠红细胞形态不规则,中央区染色变浅。与造模前相比,阳性对照组给药后红细胞计数下降,游离血红蛋白水平和网织红细胞百分比均上升（P < 0.05）;不同剂量茵栀黄组和不同浓度金银花组只有网织红细胞百分比均高于造模前水平（P < 0.05）。不同剂量茵栀黄组总胆红素和间接胆红素水平均较阳性对照组下降（P < 0.05）,不同浓度金银花组间接胆红素水平低于阳性对照组（P < 0.05）,但总胆红素水平高于各剂量茵栀黄组（P < 0.05）。与4倍剂量和8倍剂量茵栀黄组相比,2倍剂量茵栀黄组给药后大鼠总胆红素水平下降百分比最高（P < 0.05）。结论 大剂量茵栀黄口服液与不同浓度金银花提取物均不会引起G6PD缺乏大鼠发生溶血;茵栀黄口服液退黄疗效比金银花提取物好,且其疗效可能并不随剂量增大而提高。     

RT-PCR测序法检测G6PD缺乏症基因突变

目的 葡萄糖-6-磷酸脱氢酶 （G6PD）缺乏症是最常见的遗传性溶血性红细胞酶缺陷病,绝大多数为编码区单碱基突变,现有的多种基因突变检测方法均存在漏检率。该研究拟探讨RT-PCR测序法检测G6PD缺乏症基因突变的可行性。方法 将2013年8月至2014年7月的195例贫血查因或体检儿童根据G6PD/6GPD比值 （结果 G6PD缺乏组的基因突变检出率为100%,共检出13种错义突变,包括1种新突变。对照组中28例男性均没有检出错义突变;37例女性中13例检出杂合型错义突变,1例国内外未见报道的纯合型同义突变C1191T,14例C1311T多态位点。对照组的女性标本存在较高的G6PD缺乏症 （携带者）漏检率 （35%,13/37）。结论 RT-PCR测序法对G6PD基因突变检出率高,具有较大临床诊断价值。     

成都市54025例早产儿葡萄糖-6-磷酸脱氢酶缺乏症筛查结果及分子遗传学特征分析

目的 分析成都市早产儿葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase,G6PD)缺乏症筛查结果及基因突变分布情况,探讨早产儿人群G6PD筛查流程改进方案.方法 采用干血斑G6PD荧光分析法,对成都市2015年1月1日至2019年12月31日出生的54025例早产儿足跟血样本进...     

Etiology of hemolysis in two patients with hepatitis A infection: glucose-6-phosphate dehydrogenase deficiency or autoimmune hemolytic anemia

We report two children with hemolytic anemia during the course of hepatitis A infection. On admission, the patients had high blood urea nitrogen, creatinine, and uric acid levels, as well as anemia, leucocytosis, and direct and indirect hyperbilirubinemia. Both patients had a glucose-6-phosphate dehydrogenase deficiency (G6PD) and autoimmune antibodies. They were given vitamin K on admission. Inadvertent administration of vitamin K could have been related to an acute reduction in hemoglobin concentration. To prevent renal damage, plasmapheresis with fresh frozen plasma was done to clear bilirubin and plasma hemoglobin. The hyperbilirubinemia responded to plasmapheresis. However, acute tubular necrosis complicated the clinical course in one patient, and several sessions of hemodialysis were required. In conclusion, intravascular hemolysis should be considered in patients with hepatitis A infection, marked hyperbilirubinemia, and anemia. Although hepatitis A vaccination is not yet recommended for routine administration, high-risk patients, including those with a G6PD deficiency, should be vaccinated against hepatitis A.     

������ȩ��ת��ø1A1 G71Rͻ��������Ǫ�6����������øȱ�ݶ�������������Ũ�ȵ�Ӱ��

目的探讨葡萄糖醛酸转移酶1A1(UGT1A1)基因G71R突变、葡萄糖-6-磷酸脱氢酶(G6PD)缺陷对新生儿生后前3d胆红素浓度的影响.方法测定81例新生儿脐血的G6PD活性及G71R基因型,分组比较生后前3d光疗前胆红素值的组间差异.用等位基因特异性寡核苷酸探针点杂交法(ASO)确定G71R基因型.结果在G71R野生型新生儿中,G6PD缺乏组与G6PD正常组相比,生后前3d胆红素值间无统计学差异.G6PD正常新生儿中,G71R突变纯合子或杂合子的新生儿生后前3d胆红素浓度与G71R正常野生型新生儿相比无统计学差异.G6PD缺陷新生儿中,同时合并有G71R突变纯合子或杂合子的新生儿组生后第2天、第3天胆红素浓度高于G71R正常野生型新生儿组.结论G6PD缺乏与G71R基因突变并存加重新生儿黄疸程度.     

Combination of ABO blood group incompatibility and glucose-6-phosphate dehydrogenase deficiency: effect on hemolysis and neonatal hyperbilirubinemia

The incidence (%) of hyperbilirubinemia (serum bilirubin ≥257 μmol/l) was similar in neonates with a combination of ABO incompatibility and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency (45%), with ABO incompatibility (54%) or G-6-PD deficiency (37%), alone (ns). Carboxyhemoglobin values, corrected for inspired CO, were similarly elevated in all three groups (0.87 ± 0.32%, 0.82 ± 0.29%, 0.76 ± 0.18%, respectively, ns), but correlated with bilirubin only in those with ABO incompatibility alone. ABO-incompatible/G-6-PD-deficient neonates, compared with those with either condition alone, are not at increased risk for hemolysis or hyperbilirubinemia.     

A head-to-head comparison: "clean-void" bag versus catheter urinalysis in the diagnosis of urinary tract infection in young children

OBJECTIVE: To compare the validity of the urinalysis on clean-voided bag versus catheter urine specimens using the catheter culture as the "gold" standard. STUDY DESIGN: This is a cross-sectional study of 303 nontoilet-trained children under age 3 years at risk for urinary tract infection (UTI) who presented to a children's hospital emergency department. Paired bag and catheter specimens were obtained from each child and sent for dipstick and microscopic urinalysis. Sensitivity and specificity were compared using McNemar's chi2 test for paired specimens and the ordinary chi2 test for unpaired comparisons. RESULTS: The bag dipstick was more sensitive than the catheter dipstick for the entire study sample: 0.85 (95% confidence interval [CI]=0.78 to 0.93) versus 0.71 (95% CI=0.61 to 0.81), respectively. Both bag and catheter dipstick sensitivities were lower in infants < or =90 days old (0.69 [95% CI=0.44 to 0.94] and 0.46 [95% CI=0.19 to 0.73], respectively) than in infants >90 days old (0.88 [95% CI=0.81 to 0.96] and 0.75 [95% CI=0.65 to 0.86], respectively). Specificity was consistently lower for the bag specimens than for the catheter specimens: 0.62 (95% CI=0.56 to 0.69) versus 0.97 (95% CI=0.95 to 0.99), respectively. CONCLUSIONS: Urine collection methods alter the diagnostic validity of urinalysis. These differences have important implications for the diagnostic and therapeutic management of children with suspected UTI.