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中华妇幼临床医学杂志(电子版)

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: )
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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.

Key words: Mucopolysaccharidosis, Genetic screening, Child
表1 研究对象就诊原因[n（%）]
Table 1 Reasons for visiting the hospital[n（%）]
就诊原因 发生率
粘多糖病 18(25.0)
佝偻病(身材矮小) 8 ( 11.1)
生长发育迟缓 8 ( 11.1)
体检 7 (9.7)
脊柱畸形 4 (5.6)
智力低下 4 (5.6)
其他症状 7 (9.7)
无明确诊断 13 (23.6)
合计 72(100.0)
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（%）]
结果 n 酶学检测结果
异常 未见异常 未检测
显色实验法呈阳性 25 13(52.00) 5(20.00) 7(28.00)
显色实验法呈阴性 47 0 (0.00) 10(21.28) 37(78.72)
合计 72 13(18.06) 15(20.83) 44(61.11)
表3 沉淀实验法结果[n（％）]
Table 3 The results of cetrimonium bromide[n（%）]
结果 n 酶学检测结果
异常 未见异常 未检测
沉淀实验法呈阳性 36 6(16.67) 8(22.22) 22(61.11)
沉淀实验法呈阴性 36 7(19.44) 7(19.44) 22(61.11)
合计 72 13(18.06) 15(20.83) 44(61.11)
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（%）]
筛查方法 n 酶学检测结果
阳性 阴性
显色实验法 18 13(72.22) 5(27.78)
沉淀实验法 14 6(42.86) 8(57.14)
P 　 <0.05
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（%）]
筛查方法 n 酶学检测结果
阳性 阴性
显色实验法 10 0 (0.00) 10(100.00)
沉淀实验法 14 7(50.00) 7 (50.00)
P 　 <0.05
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