不同筛查方法对粘多糖贮积症的筛查效能分析

Screening Effectiveness Analysis of Different Urine Screening Test for Mucopolysaccharidosis

目的探讨不同筛查方法对粘多糖贮积症(MPS)的筛查效能。方法回顾2011年1月至2013年12月于本院儿科及遗传咨询门诊就诊的72例可疑患儿的尿粘多糖筛查结果(本研究遵循的程序符合四川大学华西第二医院人体试验委员会所制定的伦理学标准,得到该委员会批准,并征得受试对象本人的知情同意,与之签署临床研究知情同意书)。同时采用甲苯胺蓝显色实验法及溴化十六烷基三甲胺沉淀实验法对疑似MPS患儿进行尿液粘多糖筛查。结果显色实验法结果呈阳性患儿为25例,阳性筛查效能为72.22%(13/18),阴性筛查效能为100%(10/10);沉淀实验法示36例患儿结果呈阳性,阳性筛查效能为42.86%(6/14),阴性筛查效能为50%(7/14)。两种方法的阳性和阴性筛查效能比较,差异均有统计学意义(P<0.05)。结论甲苯胺蓝显色实验法是一种简单、快捷、灵敏的MPS筛查方法,值得在广大基层医院推广使用,有利于提高该病检出率。

Objective To discuss the screening efficiency of different screening methods for mucopolysaccharidosis（MPS）.Methods From January 2011 to December 2013,72 children who were suspected as MPS were included in the study.Dimethylmethylene blue and cetrimonium bromide urine screening were used in those cases.The study protocol was approved by the Ethical Review Board of Investigation in Human Being of West China Second University Hospital.Informed consent was obtained from each parent.Results The Dimethylmethylene blue urine screening results showed that there were 25 positive cases,and the positive screening efficiency was 72.22%,the negative screening efficiency was 100%.Cetrimonium bromide urine screening results showed there had 36 positive cases,the positive screening efficiency was 42.86% and the negative screening efficiency is 50%.There had significant differences between two methods both in positive and negative screening efficiency （P 〈 0.05 ）. Conclusions Dimethylmethylene blue urine screening is a simple,fast,sensitive MPS screening method,it is worth to be generalized in the basic-level hospitals to improve the detection rate of MPS.