| 鲁文青,毛国顺,于冰洁.IGHMBP2基因突变引起的腓骨肌萎缩症 1例并文献复习[J].安徽医药,2025,29(3):609-611. |
| IGHMBP2基因突变引起的腓骨肌萎缩症 1例并文献复习 |
| Charcot-marie-tooth disease caused by IGHMBP2 gene mutation: a case report and literature review |
| |
| DOI：10.3969/j.issn.1009-6469.2025.03.036 |
| 中文关键词: 腓骨肌萎缩症 IGHMBP2基因 发育异常 早期诊断 |
| 英文关键词: Peroneal muscular atrophy IGHMBP2 gene Dysplasia Early diagnosis |
| 基金项目: |
|
| 摘要点击次数: 334 |
| 全文下载次数: 165 |
| 中文摘要: |
| 目的总结腓骨肌萎缩症的疾病特点、诊断方法及治疗手段。方法回顾性分析 2022年 11月 23日就诊于安徽医科大学附属阜阳市人民医院 1例确诊为“腓骨肌萎缩症”的病儿临床资料，总结其临床表现、体格检查特点及基因结果等，并进行文献复习。结果病儿，男， 1岁 5月龄，因“行走受限 3月余”至安徽医科大学附属阜阳市人民医院儿童发育行为门诊就诊，病儿早期生长发育无异常，自 14月龄后出现行走能力倒退，积极完善基因检测显示存在 IGHMBP2基因突变，来源于父母，为杂合突变。结论 IGHMBP2基因突变是引起腓骨肌萎缩症的一个致病基因，此基因改变可引起远端肌肉萎缩、腱反射减弱或消失、足部畸形、感觉功能减退等，严重影响病儿生活，基因检测有助于明确诊断。 |
| 英文摘要: |
| Objective To summarize the characteristics, diagnosis, and treatment of charcot-marie-tooth disease.Methods The clin-ical data of a child with charcot-marie-tooth disease admitted to Fuyang People's Hospital Affiliated to Anhui Medical University on No-vember 23, 2022 were retrospectively analyzed, the clinical manifestations, physical examination characteristics and gene results weresummarized and meanwhile a literature review was conducted.Results The patient, male, aged 1 year and 5 months, visited Depart-ment of Child Development Behavior of Fuyang People's Hospital Affiliated to Anhui Medical University due to "walking restriction formore than 3 months". There was no abnormal growth and development in the early stage. But since the age of 14 months, the ability towalk degenerated, and positive genetic testing results showed that there was IGHMBP 2 gene mutation, which derived from his parentsand was heterozygous mutation.Conclusions IGHMBP2 gene mutation is a pathogenic gene causing charcot-marie-tooth disease. This gene change can cause distal muscle atrophy, weakened or absent tendon reflex, foot deformity, and sensory dysfunction, which serious-ly affect the child's life. Gene testing is helpful for a definitive diagnosis. |
|
查看全文
查看/发表评论 下载PDF阅读器 |
| 关闭 |
|
|
|
