【摘要】 目的　了解正常足月新生儿脐血血脂水平 ,确定筛查家族性高胆固醇血症患儿的血脂上界。方法　采用全自动生化分析仪 ,分别采用酶法和一步法检测 2 42例正常足月新生儿脐血的总胆固醇 (TC)、甘油三酯 (TG)、低密度脂蛋白胆固醇 (LDL C)、高密度脂蛋白胆固醇 (HDL C)的含量。结果正常足月新生儿脐血TC、TG、LDL C和HDL C分别为 ( 1 69± 0 40 )mmol/L、( 0 2 3± 0 12 )mmol/L、( 0 81± 0 2 1)mmol/L和 ( 0 5 8± 0 16)mmol/L ,除女婴的HDL C值高于男婴外 (P <0 0 5 ) ,其余指标男女差异无显著性 (P >0 0 5 )。结论　筛查家族性高胆固醇血症患儿的脐血血脂上界值推荐为TC≥2 47mmol/L和LDL C≥ 0 89mmol/L。更多还原

【Abstract】 Objective Familial hypercholesterolemia (FH) is an autosomal dominant disease with an estimated worldwide prevalence of 0.2%. It is caused by a multitude of low density lipoprotein receptor gene mutations. It is characterized with high levels of total cholesterol (TC), low density lipoprotein cholesterol (LDL-C) and a high incidence of coronary artery disease in young adults. Cord blood cholesterol concentration is used for mass screening of FH. The purpose of this study was to detect the lipid levels of cord blood in newborn infants from China and to determine the cut-off point after 1 to 2 years follow-up. Methods TC, triglycerides (TG), LDL-C and high density lipoprotein cholesterol (HDL-C) were determined in 242 healthy full-term newborn infants. Results The mean values of TC, TG, LDL-C and HDL-C in cord blood were (1.69±0.40)mmol/L, (0.23±0.12)mmol/L, (0.81±0.21)mmol/L and (0.58±0.16)mmol/L (mean±standard deviation), respectively. The HDL-C concentration in male neonates was lower than that in female neonates (P<0.05). Conclusion After the follow-up of 1 to 2 years for FH, the recommended screening cut-off points were TC≥2.47 mmol/L and LDL-C≥0.89 mmol/L.更多还原