1例晚发型甲基丙二酸血症合并高同型半胱氨酸血症临床特征及康复治疗  

Clinical characteristics of late-onset methylmalonic acidemia combined with hyperhomocysteinemia and rehabilitation treatment:one case report

作　　者：董志欢 董越峰 王紫欣 吴彤彤 郝佳鑫 赵俊青[1] Dong Zhihuan;Dong Yuefeng;Wang Zixin;Wu Tongtong;Hao Jiaxin;Zhao Junqing(Rehabilitation Medicine Department,Heping Hospital Affiliated to Changzhi Medical College,Changzhi,Shanxi 046000,China;School of Public Health and Health Management,Shandong First Medical University,Jinan,Shandong 250000,China)

机构地区：[1]长治医学院附属和平医院康复医学科,山西长治046000 [2]山东第一医科大学公共卫生与健康管理学院,山东济南250000

出　　处：《齐齐哈尔医学院学报》2024年第7期648-651,共4页Journal of Qiqihar Medical University

摘　　要：目的 分析1例晚发型甲基丙二酸血症(MMA)合并高同型半胱氨酸血症患者的临床特征及康复治疗效果。方法 回顾性分析1例晚发型MMA合并高同型半胱氨酸血症患者的临床资料,包括就诊时的主要症状、体征、辅助检查、药物治疗、康复评定、康复训练方法及预后。结果 综合康复治疗可以改善晚发型MMA患者精神行为症状及运动功能障碍,延缓疾病的进展,提高远期生存质量。结论 晚发型MMA合并高同型半胱氨酸血症患者临床异质性高,对于出现不明原因双下肢无力伴精神行为异常等多系统损害的患者,应考虑该遗传代谢病的可能。综合康复治疗可显著改善晚发型MMA合并高同型半胱氨酸血症患者精神行为症状、肌力、步行能力、日常生活活动能力及健康生存质量。Objective To analyze the clinical characteristics of a patient with late-onset methylmalonic acidemia(MMA) combined with hyperhomocysteinemia and the effect of comprehensive rehabilitation therapy.Methods A retrospective analysis was conducted on clinical data of a patient with late-onset MMA combined with hyperhomocysteinemia,including the main symptoms,physical signs,auxiliary examinations,medication,rehabilitation evaluation,rehabilitation training method and prognosis.Results Comprehensive rehabilitation therapy could significantly ameliorate psychiatric and behavior symptoms and motor dysfuction,delay the progression of the disease,and improve the long-term quality of life in late-onset MMA patients combined with hyperhomocysteinemia.Conclusions The clinical heterogeneity in patients with late-onset MMA combined with hyperhomocysteinemia is high,and the possibility of genetic metabolic disease should be considered for patients with unexplained lower limb weakness combined with mental and behavioral abnormalities and other multi-system impairment.Comprehensive rehabilitation therapy can markedly improve the mental and behavioral symptoms,muscle strength,walking ability,activities of daily living and healthy quality of life in patients with late-onset MMA complicated with hyperhomocysteinemia.

关 键 词：晚发型甲基丙二酸血症 高同型半胱氨酸血症 脱髓鞘神经病变 康复治疗 

分 类 号：R589.9[医药卫生—内分泌]