羊水壳三糖苷酶在溶酶体贮积症产前诊断中的应用

Utility of amniotic fluid chitotriosidase in the prenatal diagnosis of lysosomal storage disorders.

作者信息

Kadali Srilatha, Madalasa Tumuluri, Reddy Gummadi Maheshwar, Naushad Shaik Mohammad

机构信息

Sandor Lifesciences Pvt. Ltd, Hyderabad, India.

出版信息

Clin Biochem. 2018 Nov;61:40-44. doi: 10.1016/j.clinbiochem.2018.09.004. Epub 2018 Sep 8.

DOI:10.1016/j.clinbiochem.2018.09.004

PMID:30205089

Abstract

OBJECTIVE

Plasma chitotriosidase is a documented biomarker for certain lysosomal storage disorders. However, its clinical utility for prenatal samples is not elucidated yet.

METHODS

We have established Reference intervals for amniotic fluid chitotriosidase using control amniotic fluids (n = 47) and compared the activity with amniotic fluids affected by lysosomal storage disorders (n = 25).

RESULTS

The reference interval established was 0-6.76 nmol/h/ml. The amniotic fluids affected with LSDs exhibited elevation of chitotriosidase. The area under the curve (AUC) of receiver operating characteristic curve for affected vs. healthy was 0.987 indicating 98.6% accuracy of chitotriosidase in identifying pregnancies affected with LSDs. Among the different LSDs, Gaucher (202.00 ± 35.27 nmol/h/ml) and Niemann-pick A/B (60.33 ± 21.59 nmol/h/ml) showed very high levels of chitotriosidase.

CONCLUSION

Amniotic fluid chitotriosidase has the potential to serve as a diagnostic marker for lysosomal storage disorders, more specifically for Gaucher and Niemann-Pick A/B.

摘要

目的

血浆壳三糖苷酶是某些溶酶体贮积症的一种已被证实的生物标志物。然而，其在产前样本中的临床应用尚未阐明。

方法

我们使用对照羊水（n = 47）建立了羊水壳三糖苷酶的参考区间，并将其活性与受溶酶体贮积症影响的羊水（n = 25）进行比较。

结果

建立的参考区间为0 - 6.76 nmol/h/ml。受溶酶体贮积症影响的羊水显示壳三糖苷酶升高。患病与健康样本的受试者工作特征曲线下面积（AUC）为0.987，表明壳三糖苷酶在识别受溶酶体贮积症影响的妊娠方面准确率为98.6%。在不同的溶酶体贮积症中，戈谢病（202.00 ± 35.27 nmol/h/ml）和尼曼 - 皮克A/B型（60.33 ± 21.59 nmol/h/ml）显示出非常高的壳三糖苷酶水平。