Aims:To investigate the immunoreactive trypsinogen(IRT)-values above the usual 99th centile laboratory cut-off and determine the value of offering further testing to those infants with a markedly elevated IRT but no c...Aims:To investigate the immunoreactive trypsinogen(IRT)-values above the usual 99th centile laboratory cut-off and determine the value of offering further testing to those infants with a markedly elevated IRT but no cystic fibrosis transmembrane regulator(CFTR)gene mutation identified by the screening programme.Methods:All babies born in Victoria,Australia,between 1991 and 2003,were screened by IRT followed by CF gene mutation analysis.Results:Of the 806 520 babies born,9268 with the highest IRT levels had CFTR mutation analysis.There were 123 ΔF508 homozygotes and 703 heterozygotes(86 with CF,617 carriers).A total of 8442 babies had no CFTR gene mutation,of whom 18(0.21%)had CF.The total number of CF babies with IRT greater than the laboratory cut-off was 227(2.4%).The IRT results of the CF patients were distributed normally,with the majority above the laboratory cut-off of newborn IRT results.There was no evidence of an excess of babies with CF in the very highest levels of IRT above the 99th centile.Conclusions:Only a small proportion of babies with a neonatal IRT > 99th centile have CF.Additional CF testing for infants with an elevated IRT but no CFTR gene mutation has an extremely low yield,no matter how high the IRT result.展开更多
文摘目的研究胰蛋白酶原基因(PRSS1)不同的基因型对乙型肝炎病毒表面抗原的反应性。方法将8例携带PRSS1 A121T(c.361 G>A)突变、12例PRSS1基因沉默突变D162D(c.486 C>T)的胰腺炎患者和16例健康体检者的外周血淋巴细胞分别加于乙型肝炎病毒(hepatitis B virus,HBV)衣壳抗原和0.9%生理盐水进行体外培养,在0、12、24、36、48、72 h计数点对不同组别的淋巴细胞进行充池计数并折算成增殖率,同时用流式细胞术检测CD4、CD8的表达情况,并对不同基因型胰腺炎患者的乙型肝炎病毒表面抗体(hepatitis B surface antibody,anti-HBs)水平在病程中变化情况进行统计分析。结果携带PRSS1基因A121T突变的胰腺炎患者的anti-HBs水平在胰腺炎病程中波动较大,而携带沉默突变的胰腺炎患者与健康对照无显著性差异,在外周血淋巴细胞刺激增殖实验中A121T突变的胰腺炎患者对HBV的反应性呈减弱状态,而沉默突变的胰腺炎患者与健康对照无显著性差异,流式细胞术检测显示PRSS1基因A121T突变的胰腺炎患者的CD4/CD8比值降低。结论来自胰蛋白酶原基因不同基因型的淋巴细胞对乙型肝炎病毒表面抗原的反应性不一,胰蛋白酶原基因突变会干扰T淋巴细胞受体对乙型肝炎病毒表面抗原的反应性。
文摘Aims:To investigate the immunoreactive trypsinogen(IRT)-values above the usual 99th centile laboratory cut-off and determine the value of offering further testing to those infants with a markedly elevated IRT but no cystic fibrosis transmembrane regulator(CFTR)gene mutation identified by the screening programme.Methods:All babies born in Victoria,Australia,between 1991 and 2003,were screened by IRT followed by CF gene mutation analysis.Results:Of the 806 520 babies born,9268 with the highest IRT levels had CFTR mutation analysis.There were 123 ΔF508 homozygotes and 703 heterozygotes(86 with CF,617 carriers).A total of 8442 babies had no CFTR gene mutation,of whom 18(0.21%)had CF.The total number of CF babies with IRT greater than the laboratory cut-off was 227(2.4%).The IRT results of the CF patients were distributed normally,with the majority above the laboratory cut-off of newborn IRT results.There was no evidence of an excess of babies with CF in the very highest levels of IRT above the 99th centile.Conclusions:Only a small proportion of babies with a neonatal IRT > 99th centile have CF.Additional CF testing for infants with an elevated IRT but no CFTR gene mutation has an extremely low yield,no matter how high the IRT result.
