目的 分析假肥大型肌营养不良患儿的临床和基因变异特点。方法 纳入2016年8月-2024年5月新乡医学院第一附属医院和东莞市第八人民医院/东莞市儿童医院儿科通过基因检测确诊为假肥大型肌营养不良患儿107例,对其临床表现、生化检查和基因变异结果进行分析。结果 患儿均为男性,主要以肌无力、转氨酶和肌酸激酶升高为主要临床表现。肌酸激酶、丙氨酸转氨酶和天冬氨酸转氨酶明显升高。通过高通量检测技术和多重连接探针扩增检测抗肌萎缩球蛋白基因大多数为外显子缺失变异,共73例,外显子重复变异12例,微小变异22例。所有的变异可发生在基因的任何位置,但是有一个缺失的热点区域:外显子44~55区域共60例,占外显子缺失变异的70.59%。结论 肌无力、转氨酶和肌酸激酶升高为假肥大型肌营养不良患儿的主要临床表现。转氨酶和肌酸激酶升高明显的患儿需进行抗肌萎缩球蛋白基因检测。

Objective To analyze the clinical features and genetic variations of pseudohypertrophic muscular dystrophy (PMD) in children. Methods From August 2016 to May 2024, 107 children with PMD diagnosed by genetic testing in the Department of Pediatrics of the First Affiliated Hospital of Xinxiang Medical University and Dongguan Eighth People's Hospital / Dongguan Children's Hospital were included. The clinical manifestations, biochemical testing and genetic variation results were analyzed. Results All 107 patients were male, and the main clinical manifestations were muscle weakness, elevated transaminase and creatine kinase. Creatine kinase, alanine aminotransferase and aspartate aminotransferase increased significantly. Through high-throughput sequencing and multiplex ligation-dependent probe amplification, it was found that most of the anti-amyotrophic globulin genes had exon deletion mutations ( n=73), and exon duplication mutations, and minor mutations were detected in 12 and 22 cases, respectively. All mutations could occur anywhere in the gene, but dominantly in the exon 44-55 region ( n=60, 70.59%). Conclusion Muscle weakness, elevated transaminase and creatine kinase are the main clinical manifestations of children with PMD. Children with significant elevation of transaminase and creatine kinase need to be tested for anti-muscle atrophy globulin gene.