摘要：

目的: 评价骨骼肌组织活检术对无症状和轻症高肌酸激酶血症的诊断价值。方法与结果: 选择2020年7月至2023年2月经北京大学第一医院确诊的无症状和轻症高肌酸激酶血症患者共146例，均行骨骼肌组织活检术。其中，72.60%（106/146）呈组织学改变，包括肌营养不良样（73例）、炎性或坏死性肌病样（16例）和其他肌病样（15例）改变，以及神经源性骨骼肌损害（2例）；病理诊断阳性率为50.68%（74/146），肌营养不良占82.43%（61/74）、炎性肌病8.11%（6/74）、代谢性肌病9.46%（7/74）；病因诊断阳性率为85.62%（125/146），肌营养不良占67.20%（84/125）、炎性肌病13.60%（17/125）、代谢性肌病7.20%（9/125）、其他病因12%（15/125）。不同亚组比较，血清肌酸激酶显著升高组和青少年组病理异常比例（χ²=14.043，P=0.000；χ²=12.740，P=0.000）、病理（χ²=10.641，P=0.001；χ²=25.530，P=0.000）和病因（Fisher确切概率法：P=0.000；χ²=10.811，P=0.001）诊断阳性率分别高于血清肌酸激酶轻度升高组和成人组，无症状组病理诊断阳性率高于轻症组（χ²=4.792，P=0.029）；血清肌酸激酶轻度升高组与显著升高组（Fisher确切概率法：P=0.000）、青少年组与成人组（χ²=86.149，P=0.000）、无症状组与轻症组（χ²=20.608，P=0.000）相比，病因构成比差异均有统计学意义。结论: 骨骼肌组织活检术对无症状和轻症高肌酸激酶血症的病因学诊断具有重要参考价值，肌营养不良是无症状和轻症高肌酸激酶血症患者的常见病因。

关键词: 神经肌肉疾病, 肌酸激酶, 病理学

Abstract:

Objective: To evaluate the diagnostic value of skeletal muscle biopsy in asymptomatic and pauci - symptomatic hyperCKemia. Methods and Results: A total of 146 patients with asymptomatic or pauci - symptomatic hyperCKemia diagnosed in Peking University First Hospital from July 2020 to February 2023 were selected, and skeletal muscle biopsy was performed. About 72.60% (106/146) had histological changes, including muscular dystrophy (n=73), inflammatory or necrotizing myopathy (n=16), other myopathy (n=15), and neurogenic skeletal muscle damage (n=2). The positive rate of pathological diagnosis was 50.68% (74/146), including muscular dystrophy 82.43% (61/74), inflammatory myopathy 8.11% (6/74) and metabolic myopathy 9.46% (7/74). The positive rate of etiological diagnosis was 85.62% (125/146), including muscular dystrophy 67.20% (84/125), inflammatory myopathy 13.60% (17/125), metabolic myopathy 7.20% (9/125) and other causes 12% (15/125). Compared with different subgroups, the proportion of pathological changes (χ²=14.043, P=0.000; χ²=12.740, P=0.000), the positive rate of pathological diagnosis (χ²=10.641, P=0.001; χ²=25.530, P=0.000) and etiological diagnosis (Fisher's exact probability: P=0.001; χ²=10.811, P=0.001) in the significantly elevated creatine kinase (CK) level group and the adolescent group was significantly higher than those in the mildly elevated CK level group and the adult group. The positive rate of pathological diagnosis in the asymptomatic group was higher than the pauci - symptomatic group (χ²=4.792, P=0.029). There were significant differences in the etiological ratio between the mildly elevated CK level group and the significantly elevated CK level group (Fisher's exact probability: P=0.000), the adolescent group and the adult group (χ²=86.149, P=0.000), and the asymptomatic group and the pauci - symptomatic group (χ²=20.608, P=0.000). Conclusions: Skeletal muscle biopsy was important in etiological diagnosis of asymptomatic and pauci-symptomatic hyperCKemia. Muscular dystrophy is a common cause of asymptomatic and pauci-symptomatic hyperCKemia.

Key words: Neuromuscular diseases, Creatine kinase, Pathology