Lee Ni-Chung, Chang Kai-Ling, In 't Groen Stijn L M, de Faria Douglas O S, Huang Hsiang-Ju, Pijnappel W W M Pim, Hwu Wuh-Liang, Chien Yin-Hsiu
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan.
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
J Pediatr. 2022 May;244:139-147.e2. doi: 10.1016/j.jpeds.2021.12.072. Epub 2022 Jan 4.
To determine the outcomes of patients with later-onset Pompe disease (LOPD) identified through newborn screening (NBS).
A prospective observational cohort study was conducted from the initiation of Pompe disease NBS by following subjects every 3-12 months for motor development and biochemical markers.
Between 2005 and 2018, 39 of 994 975 newborns evaluated were classified as having LOPD based on low acid α-glucosidase (GAA) activity but no cardiac involvement at the time of screening. As of December 2020, 8 of these 39 infants (21%) were treated with enzyme replacement therapy owing to persistent elevation of creatine kinase (CK), cardiac involvement, or developmental delay. All subjects' physical performance and endurance improved after treatment. Subjects carrying c.[752C>T;761C>T] and c.[546+5G>T; 1726G>A] presented a phenotype of nonprogressive hypotonia, muscle weakness, and impairment in physical fitness tests, but they have not received treatment.
One-fifth of subjects identified through NBS as having LOPD developed symptoms after a follow-up of up to 15 years. NBS was found to facilitate the early detection and early treatment of those subjects. GAA variants c.[752C>T;761C>T] and c.[546+5G>T; 1726G>A] might not cause Pompe disease but still may affect skeletal muscle function.
确定通过新生儿筛查（NBS）确诊的晚发型庞贝病（LOPD）患者的预后情况。
自庞贝病新生儿筛查开始，开展一项前瞻性观察队列研究，每3 - 12个月对受试者进行随访，评估其运动发育和生化指标。
2005年至2018年期间，在接受评估的994975名新生儿中，有39名基于筛查时酸性α - 葡萄糖苷酶（GAA）活性低但无心脏受累，被归类为患有LOPD。截至2020年12月，这39名婴儿中有8名（21%）因肌酸激酶（CK）持续升高、心脏受累或发育迟缓而接受了酶替代治疗。所有受试者治疗后的身体表现和耐力均有所改善。携带c.[752C>T;761C>T]和c.[546+5G>T; 1726G>A]的受试者表现为非进行性肌张力减退、肌肉无力和体能测试受损，但未接受治疗。
通过新生儿筛查确诊为LOPD的受试者中，五分之一在长达15年的随访后出现了症状。发现新生儿筛查有助于这些受试者的早期检测和早期治疗。GAA变体c.[752C>T;761C>T]和c.[546+5G>T; 1726G>A]可能不会导致庞贝病，但仍可能影响骨骼肌功能。
