Burlina Alberto B, Polo Giulia, Rubert Laura, Gueraldi Daniela, Cazzorla Chiara, Duro Giovanni, Salviati Leonardo, Burlina Alessandro P
Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children's Health, University Hospital of Padova, Via Orus 2/B, 35129 Padova, Italy.
Institute of Biomedicine and Molecular Immunology (IBIM), National Research Council, Via Ugo La Malfa, 153-90146 Palermo, Italy.
Int J Neonatal Screen. 2019 Jun 21;5(2):24. doi: 10.3390/ijns5020024. eCollection 2019 Jun.
The increasing availability of treatments and the importance of early intervention have stimulated interest in newborn screening for lysosomal storage diseases. Since 2015, 112,446 newborns in North Eastern Italy have been screened for four lysosomal disorders-mucopolysaccharidosis type I and Pompe, Fabry and Gaucher diseases-using a multiplexed tandem mass spectrometry (MS/MS) assay system. We recalled 138 neonates (0.12%) for collection of a second dried blood spot. Low activity was confirmed in 62 (0.06%), who underwent confirmatory testing. Twenty-five neonates (0.02%) were true positive: eight with Pompe disease; seven with Gaucher disease; eight with Fabry disease; and two with Mucopolysaccharidosis type I. The combined incidence of the four disorders was 1 in 4497 births. Except for Pompe disease, a second-tier test was implemented. We conclude that newborn screening for multiple lysosomal storage diseases combined with a second-tier test can largely eliminate false-positives and achieve rapid diagnosis.
治疗方法的日益普及以及早期干预的重要性激发了人们对溶酶体贮积病新生儿筛查的兴趣。自2015年以来，意大利东北部的112446名新生儿接受了针对四种溶酶体疾病（I型黏多糖贮积症、庞贝氏病、法布里病和戈谢病）的筛查，采用的是多重串联质谱（MS/MS）检测系统。我们召回了138名新生儿（0.12%）以采集第二份干血斑。62名新生儿（0.06%）被证实酶活性低，并接受了确诊检测。25名新生儿（0.02%）为真阳性：8名患有庞贝氏病；7名患有戈谢病；8名患有法布里病；2名患有I型黏多糖贮积症。这四种疾病的合并发病率为每4497例出生中有1例。除庞贝氏病外，均实施了二线检测。我们得出结论，对多种溶酶体贮积病进行新生儿筛查并结合二线检测可以很大程度上消除假阳性并实现快速诊断。
