CAJ | 학술논문

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 MP S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。
목적：탐토불동사사방법대점다당저적증(MPS)적사사효능。방법회고2011년1월지2013년12월우본원인과급유전자순문진취진적72례가의환인적뇨점다당사사결과(본연구준순적정서부합사천대학화서제이의원인체시험위원회소제정적윤리학표준，득도해위원회비준，병정득수시대상본인적지정동의，여지첨서림상연구지정동의서)。동시채용갑분알람현색실험법급추화십륙완기삼갑알침정실험법대의사 MP S환인진행뇨액점다당사사。결과현색실험법결과정양성환인위25례，양성사사효능위72.22%(13/18)，음성사사효능위100%(10/10)；침정실험법시36례환인결과정양성，양성사사효능위42.86%(6/14)，음성사사효능위50%(7/14)。량충방법적양성화음성사사효능비교，차이균유통계학의의(P<0.05)。결론갑분알람현색실험법시일충간단、쾌첩、령민적 MPS 사사방법，치득재엄대기층의원추엄사용，유리우제고해병검출솔。
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.