Menello Caitlin, Pressley Shaney, Steffensen Madeline, Schmidt Sarah, Pedro Helio, Jethva Reena, Valdez-Gonzalez Karen, Adams Darius J, Gupta Punita, King Lorien Tambini, Velinov Milen, Anderson Sharon, Bizargity Peyman, Pletcher Beth, Tuite Allysa, Kresge Christina, Day-Salvatore Debra Lynn, Kuehl Ryan, Ficicioglu Can
Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Int J Neonatal Screen. 2025 May 2;11(2):34. doi: 10.3390/ijns11020034.
Gaucher disease (GD) is a lysosomal storage disorder (LSD) characterized by glycosphingolipid accumulation. Age of symptomonset and disease progression varies across types of disease. Newborn screening (NBS) for Gaucher disease facilitates early identification of affected individuals and enables pre-symptomatic monitoring with the goal of starting therapies early and improving clinical outcomes. This multi-center study involved New Jersey NBS referral centers. Data regarding initial NBS results, confirmatory testing, diagnosis, and treatment were collected. For patients on therapy, monitoring biomarkers and exam findings are available as of the last clinical evaluation. Between July 2019 and December 2023, 438,515 newborns were screened, with 60 screen-positive cases. Of those positive screens, 19 cases with positive screens did not undergo confirmatory testing due to parental refusal, loss to follow-up, or death; 23 cases were false positives; 14 newborns were diagnosed with GD type I; 2 newborns were diagnosed with suspected type I GD; 2 newborns were diagnosed with GD type II; and 1 case is still pending. Three type I GD patients started enzyme replacement therapy, with the youngest starting at 28 months of age. Post-treatment data are available for these individuals. One type II case was referred to experimental gene therapy, and one was started on ERT. Our results demonstrate that NBS for GD is a valuable public health tool that can facilitate early diagnosis and intervention.
戈谢病（GD）是一种溶酶体贮积症（LSD），其特征是糖鞘脂蓄积。症状出现的年龄和疾病进展因疾病类型而异。戈谢病的新生儿筛查（NBS）有助于早期识别受影响个体，并能够进行症状前监测，目标是尽早开始治疗并改善临床结果。这项多中心研究涉及新泽西州的NBS转诊中心。收集了有关初始NBS结果、确证检测、诊断和治疗的数据。对于接受治疗的患者，截至最后一次临床评估时可获得监测生物标志物和检查结果。在2019年7月至2023年12月期间，对438,515名新生儿进行了筛查，有60例筛查呈阳性。在这些阳性筛查结果中，19例筛查阳性的病例由于家长拒绝、失访或死亡而未进行确证检测；23例为假阳性；14名新生儿被诊断为I型戈谢病；2名新生儿被诊断为疑似I型戈谢病；2名新生儿被诊断为II型戈谢病；1例仍在等待诊断。3例I型戈谢病患者开始接受酶替代疗法，最年轻的患者在28个月时开始治疗。这些个体有治疗后的相关数据。1例II型病例被转诊接受实验性基因治疗，1例开始接受ERT治疗。我们的结果表明，戈谢病的新生儿筛查是一种有价值的公共卫生工具，可以促进早期诊断和干预。
