阜阳地区4例假肥大型肌营养不良患者基因检测的意义  

Significance of gene detection in 4 cases of pseudohypertrophic muscular dystrophy in Fuyang

作　　者：于冰洁 毛国顺 李利 Yu Bingjie;Mao Guoshun;Li Li(Fuyang Clinical College,Anhui Medical University,Fuyang,Anhui,236000,China;Fuyang People's Hospital,Fuyang,Anhui,236000,China)

机构地区：[1]安徽医科大学阜阳临床学院,安徽阜阳236000 [2]阜阳市人民医院,安徽阜阳236000

出　　处：《当代医学》2020年第16期17-20,共4页Contemporary Medicine

摘　　要：目的对阜阳地区4例假肥大型肌营养不良患者的临床表现、DMD基因突变类型进行分析,并总结基因检测的意义。方法总结考虑诊断为肌营养不良的4例患者临床表现、体征,完善血清肌酸激酶及基因检查,通过基因测序明确诊断,分析其基因突变种类,并突出基因的诊断价值。结果4例患者的病程中皆出现独自行走时间延迟,随着病情进展,逐渐出现下蹲、行走困难等表现,血清酶学显著增高,尤其是肌酸激酶,且基因改变为DMD基因片断存在大片段缺失。结论接诊行走不稳、独走延迟等患儿需考虑进行性肌营养不良的可能,肝炎、心肌炎等疾病可导致肌酸激酶及谷草转氨酶等升高,且基因测序对本疾病的确诊存在重要价值及意义。Objective To analyze the clinical manifestations and DMD gene mutation types of 4 patients with pseudohypertrophic muscular dystrophy in Fuyang and to summarize the significance of gene detection.Methods To summarize the clinical manifestations and signs of 4 patients diagnosed as muscular dystrophy,improve the serum creatine kinase and gene detection,identify the diagnosis by gene sequencing,analyze the types of gene mutations,and highlight the diagnostic value of genes.Results The duration of walking alone was delayed in all 4 patients.As the disease progressed,the symptoms of squatting and walking difficulty gradually appeared.Serum enzymology increased significantly,especially creatine kinase,and large deletions of DMD gene fragments were found.Conclusion The possibility of progressive muscular dystrophy should be considered in children with unstable walking and delayed solitary walking.Diseases such as hepatitis and myocarditis can lead to the increase of creatine kinase and glutamic oxaloacetic transaminase,and gene sequencing has important value and significance in the diagnosis of this disease.

关 键 词：肌营养不良 临床表现 血清酶学 基因缺失 

分 类 号：R746.2[医药卫生—神经病学与精神病学]