Chinese Medical E-ournals Database

Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition) ›› 2014, Vol. 10 ›› Issue (02): 161 -164. doi: 10.3877/cma.j.issn.1673-5250.2014.02.008

Special Issue:

Original Article

Screening Effectiveness Analysis of Different Urine Screening Test for Mucopolysaccharidosis

Xuemei Zhang1, Qian Zhu1, Hongmei Zhu1, Xinlian Chen2, Liangyu Xie1, He Wang2(), Shanling Liu2()   

  1. 1. Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
  • Received:2014-01-11 Revised:2014-03-09 Published:2014-04-01
  • Corresponding author: He Wang, Shanling Liu
  • About author:
    (Corresponding author: Wang He, Email: )
    Liu Shanling, Email: )
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.

表1 研究对象就诊原因[n(%)]
Table 1 Reasons for visiting the hospital[n(%)]
图1 显色实验法结果(上为阳性结果,中为阴性结果,下为阳性对照)
Figure 1 Results of dimethylmethylene blue
图2 沉淀实验法结果(左为阴性结果,右为阳性结果)
Figure 2 Results of cetrimonium bromide
表2 显色实验法结果[n(%)]
Table 2 The Result of dimethylmethylene blue[n(%)]
表3 沉淀实验法结果[n(%)]
Table 3 The results of cetrimonium bromide[n(%)]
表4 两种筛查方法中结果呈阳性的筛查效能比较[n(%)]
Table 4 Comparison of screening efficiency between the two positive results [n(%)]
表5 两种筛查方法中结果呈阴性的筛查效能比较[n(%)]
Table 5 Comparison of screening efficiency between the two negative results[n(%)]
[1]
张惠文,王瑜,叶军,等.黏多糖贮积症47例的常见酶学分型[J].中华儿科杂志,2009,47(4):276-280.
[2]
Tomatsu S,Fujii T,Fukushi M,et al.Newborn screening and diagnosis of mucopolysaccharidoses[J].Mol Genet Metab,2013,110(1-2):42-53.
[3]
Hayes IM,Collins V,Sahhar M,et al.Newborn screening for mucopolysaccharidoses:opinions of patients and their families[J]. Clin Genet,2007,71(5):446-450.
[4]
de Jong JG,Heijs WM,Wevers RA.Mucopolysaccharidoses screening:dimethylmethylene blue versus alcian blue[J].Ann Clin Biochem,1994,31(3):267-271.
[5]
Dembure PP,Drumheller JE,Barr SM,et al.Selective urinary screening for mucopolysaccharidoses[J].Clin Biochem,1990,23(1):91-96.
[6]
Asami T,Mito Y,Sakai K.Mass-screening for acid mucopolysaccharidosis using urine samples by modified HCl-albumin turbidity method[J].Rinsho Byori,1989,37(11):1247-1251.
[7]
张雪梅,刘之英,陈新莲,等.粘多糖贮积症Ⅱ型的酶学诊断、产前诊断及临床分析[J].第三军医大学学报,2012,02(34):132-133.
[8]
雷红林,叶军,张惠文,等.35例黏多糖贮积症Ⅳ型患儿临床特点及酶学诊断[J].临床儿科杂志,2012,30(5):442-445.
[9]
Wraith JE.Mucopolysaccharidoses and mucolipidoses[J].Handb Clin Neurol,2013,113:1723-1729.
[10]
de Jong JG,Wevers RA,Laarakkers C,et al.Poorthuls dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine:a rapid screening procedure for mucopolysaccharidoses [J].Clin Chem,1989,35(7):1472-1477.
[11]
郭奕斌.黏多糖病的诊断及防治策略[J/CD].中华临床医师杂志:电子版,2009,3(10):1620-1627.
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