Al-Ghamdi Fouad, Darras Basil T, Ghosh Partha S
1 Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
2 King Fahad Specialist Hospital, Al Muraikabat, Dammam, Saudi Arabia.
J Child Neurol. 2018 May;33(6):389-396. doi: 10.1177/0883073818758455. Epub 2018 Mar 26.
Elevated creatine kinase is a useful screening test in the diagnostic workup of patients with neuromuscular disorders. We did a retrospective study of children with hyperCKemia (>175 IU/L) who were followed in the neuromuscular program of a tertiary care pediatric center from 2005 to 2016. Patients with hyperCKemia were divided into 2 groups: myopathic and nonmyopathic. Within the myopathic group, there were 3 arbitrary subgroups based on creatine kinase values: A (creatine kinase >10 times normal), B (creatine kinase 5-10 times normal), and C (creatine kinase 1-5 times normal). The 3 major categories of myopathies across all the subgroups were muscular dystrophies (commonest) followed by metabolic myopathies and inflammatory myopathies. Among the nonmyopathic causes of hyperCKemia, spinal muscular atrophy was the commonest. Muscular dystrophies should be considered in children with hyperCKemia, muscle weakness, or calf hypertrophy, and metabolic myopathies to be considered in children with recurrent rhabdomyolysis.
肌酸激酶升高是对神经肌肉疾病患者进行诊断性检查时一项有用的筛查试验。我们对2005年至2016年在一家三级护理儿科中心的神经肌肉项目中接受随访的高肌酸激酶血症（>175 IU/L）儿童进行了一项回顾性研究。高肌酸激酶血症患者分为两组：肌病性和非肌病性。在肌病性组中，根据肌酸激酶值分为3个任意亚组：A组（肌酸激酶>正常上限10倍）、B组（肌酸激酶为正常上限5 - 10倍）和C组（肌酸激酶为正常上限1 - 5倍）。所有亚组中3种主要的肌病类型依次为肌肉萎缩症（最常见），其次是代谢性肌病和炎性肌病。在高肌酸激酶血症的非肌病性病因中，脊髓性肌萎缩症最为常见。对于有高肌酸激酶血症、肌无力或小腿肥大的儿童应考虑肌肉萎缩症，对于有复发性横纹肌溶解的儿童应考虑代谢性肌病。
