Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
J Pediatr. 2011 Jun;158(6):1023-1027.e1. doi: 10.1016/j.jpeds.2010.11.053. Epub 2011 Jan 13.
To determine whether newborn screening facilitates early detection and thereby early treatment initiation for later-onset Pompe disease.
We have conducted a newborn screening program since 2005. Newborns with deficient skin fibroblast acid α-glucosidase activity and two acid α-glucosidase gene mutations but no cardiomyopathy were defined as having later-onset Pompe disease, and their motor development and serum creatine kinase levels were monitored every 3 to 6 months.
Among 344 056 newborns, 13 (1 in 26 466) were found to have later-onset Pompe disease. During a follow-up period of up to 4 years, four patients were treated because of hypotonia, muscle weakness, delayed developmental milestones/motor skills, or elevated creatine kinase levels starting at the ages of 1.5, 14, 34, and 36 months, respectively. Muscle biopsy specimens obtained from the treated patients revealed increased storage of glycogen and lipids.
Newborn screening was found to facilitate the early detection of later-onset Pompe disease. A subsequent symptomatic approach then identifies patients who need early treatment initiation.
确定新生儿筛查是否有助于早期发现迟发性庞贝病，从而实现早期治疗。
我们自 2005 年起开展新生儿筛查项目。将皮肤成纤维细胞酸性α-葡萄糖苷酶活性缺乏且存在两种酸性α-葡萄糖苷酶基因突变但无心肌病的新生儿定义为迟发性庞贝病，并每 3 至 6 个月监测其运动发育和血清肌酸激酶水平。
在 344 056 例新生儿中，有 13 例（1 例/26 466 例）患有迟发性庞贝病。在最长达 4 年的随访期间，分别有 4 名患者因 1.5 个月、14 个月、34 个月和 36 个月时出现的肌张力低下、肌无力、发育里程碑/运动技能延迟或肌酸激酶水平升高而接受治疗。对接受治疗的患者进行肌肉活检，发现糖原和脂质堆积增加。
新生儿筛查有助于早期发现迟发性庞贝病。随后采取对症治疗方法，可确定需要早期开始治疗的患者。
