Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening

医学 张力减退 酶替代疗法 肌酸激酶 糖原贮积病Ⅱ型 内科学 疾病 新生儿筛查 儿科 肌肉无力 前瞻性队列研究 队列
作者
Ni‐Chung Lee,Kai‐Ling Chang,Stijn L.M. in ‘t Groen,Douglas Oliveira Soares de Faria,Hsiang-Ju Huang,W.W.M. Pim Pijnappel,Wuh‐Liang Hwu,Yin‐Hsiu Chien
出处
期刊:The Journal of Pediatrics [Elsevier BV]
卷期号:244: 139-147.e2 被引量:19
标识
DOI:10.1016/j.jpeds.2021.12.072
摘要

ObjectiveTo determine the outcomes of patients with later-onset Pompe disease (LOPD) identified through newborn screening (NBS).Study designA 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.ResultsBetween 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.ConclusionsOne-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. 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.
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