目的 分析Duchenne型肌营养不良(duchenne muscular dystrophy, DMD)患儿主要生活事件及其临床特点。方法 选取我院确诊的202例DMD患儿,详细记录临床资料,分析患儿的运动功能、认知功能、心脏功能、呼吸功能的自然病程。结果 DMD患儿习步年龄为(17.50±4.84)个月,发病年龄为(3.32±1.87)岁;主要就诊原因以行走缓慢易摔倒比例最高。习步月龄在18个月以上的患儿占45.1%,94.5%患儿双侧腓肠肌假性肥大,Gower征阳性患儿在5～7岁时占72.2%。基因突变类型以缺失突变为主。8%患儿合并认知功能障碍(得分＜70)。行心电图检查者136例,有异常的患儿80例;行超声心动图检查者142例,有异常的患儿67例。5.0～12.9岁DMD患儿经鼻吸气压力(sniff nasal inspiratory pressure, SNIP)平均值为(60.12±16.96)cmH2O。结论 DMD 患儿病程进展遵循一定规律,出生后依次出现习步延迟、爬楼梯困难和步行一小段距离的能力衰退;同时需要充分认识患儿的心肺功能病变特点,早期诊断 、早期预防,对延缓病情进展及提高生活质量有重要意义。
Abstract
Objective To analyze the major lifetime events and clinical features in children suffering from Duchenne muscular dystrophy (DMD). Methods Two hundred and two DMD patients were diagnosed. Data of the patients were collected and the natural history of DMD analyzed, including motor, cognitive, heart and respiratory functions.Results Mean age of the patients independent ambulation was (17.50±4.84) years and the onset age was about (3.32±1.87) years. The main reasons for visiting doctors were walking slowly and frequent falls. About 45.1% of patients began their first walking after 18 months old. About 94.5% of patients had gastrocnemius muscle pseudohypertrophy, and 72.2% of patients aged from 5 to 7 years old were Gower’s sign positive. Exon deletion was the most frequent genetic mutation in these patients. 8% of patients demonstrated mental retardation (scores<70). 80 of 136 patients had abnormal electrocardiograms changes, 67 of 142 patients had abnormal electrocardiography changes. The SNIP averaged (60.12±16.96)cm H2O in the patients aged 5.0 to 12.9 years. Conclusions The natural history of DMD children follows the unvarying rule. They usually manifest delay in learning walk, stair climbing problem, and difficulty in walking after one hour. It is very important to understand the pathological change characteristics of cardio-pulmonary function in DMD children and early diagnosis and prevention in retarding the progress of diseases and improing quality of life of DMD children.
关键词
肌营养不良 /
杜氏 /
生活事件 /
临床特点
Key words
muscular dystrophy /
Duchenne /
lifetime events /
clinical features
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参考文献
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基金
首都临床特色应用研究与成果推广(课题编号:Z151100004015025)
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