摘要
目的 采用脐血检测胆固醇用以筛查家族性高胆固醇血症患儿,探讨早期筛查家族性高胆固醇血症的适宜方法。 方法 收集1 000例产妇静脉血及其足月新生儿脐血测定胆固醇水平,以2.50 mmol/L为切值筛选可疑病例,通过调查家族史和基因检测确诊患儿。结果 足月新生儿脐血胆固醇均值为(1.81±0.46)mmol/L;≥2.50 mmol/L切值者70例,确诊家族性高胆固醇血症患儿2例,发生率为1/500;脐血胆固醇不受母血胆固醇水平的影响。结论 新生儿脐血胆固醇测定早期筛查家族性高胆固醇血症的方法简便,结果可靠,适宜人群大规模筛查中采用。
Objective To explore the possibility of early screening familial hypercholesterolemia (FH) high-risk colony through infant umbilical blood cholesterol testing. Methods Venous blood samples from 1 000 mothers and their mature newborn' s umbilical blood were collected to test cholesterol level, 2. 50 mmol/L is set to be the screening cut point for suspected cases. FH infant was diagnosed by family history and genetic detection. Results Mean umbilical blood cholesterol level of the mature infants was (1. 81?
基金
国家"九五"医学科技攻关基金项目资助(No.960411437)
