Clinical Phenotype Classification, Staging and Prognostic Evaluation of Amyotrophic Lateral Sclerosis
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摘要: 肌萎缩侧索硬化(amyotrophic lateral sclerosis, ALS)是一种进展性神经系统变性疾病。其起病隐袭, 进展缓慢, 因呼吸衰竭死亡, 目前尚无治愈方法。近年来研究表明多种措施可延长患者存活期, 提高患者生活质量。为了科学合理地治疗ALS, 本文就其临床分型、分期、治疗模式及对ALS病情进展的评估和随访方法进行介绍。Abstract: Amyotrophic lateral sclerosis(ALS) is a progressive neurodegenerative disease, characterized by insidious onset, slow progression, and death due to respiratory failure. There is no cure for it. Recent studies show that many measures can prolong the survival of patients with ALS, and improve their quality of life. In order to treat ALS scientifically and rationally, this paper introduces its clinical classification, staging, treatment mode, and methods for evaluating and following up the progress of ALS disease.
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表 1 肌萎缩侧索硬化临床表型与存活预测[6]
临床表型 各型所占比例(%) 发病年龄(岁) 诊断延迟(月) 合并FTD比例(%) 中位存活时间(95% CI,年) 存活率[%(标准误] 3年 5年 10年 经典型ALS 30.33 62.8 10.9 4.0 2.6(2.0~3.0) 43.3(0.025) 24.2(0.022) 13.0(0.020) 延髓型ALS 33.33 68.8 9.8 9.0 2.0(1.9~2.2) 21.9(0.020) 8.9(0.014) 3.4(0.010) 连枷臂综合征 5.56 62.6 12.8 1.4 4.0(3.3~5.0) 62.9(0.058) 38.5(0.058) 17.4(0.050) 连枷腿综合征 12.99 65.0 13.1 4.1 3.0(2.5~3.4) 49.1(0.039) 25.1(0.033) 12.8(0.030) 锥体束征型ALS 9.01 58.3 15.9 2.5 6.3(4.0~8.7) 70.8(0.042) 55.3(0.046) 31.9(0.050) 呼吸型ALS 1.05 62.2 6.4 - 1.4(1.0~2.1) 22.0(0.100) 6.7(0.064) - 纯下运动神经元综合征 2.85 56.2 15.5 - 7.3(4.7~10.3) 85.7(0.059) 65.6(0.081) 36.6(0.086) 纯上运动神经元综合征 3.98 58.9 15.9 3.8 13.1(12.2~15.0) 96.1(0.027) 90.3(0.004) 71.1(0.070) 平均 64.3 10.8 5.4 2.5(2.3~2.6) 39.9(0.014) 22.1(0.012) 11.4(0.010) FTD:额颞叶痴呆 表 2 肌萎缩侧索硬化伦敦分期与生存期
分期 最近一次记录情况 平均生存时间(月) 5年生存率(%) 球部发病 肢体发病 球部发病 肢体发病 1期 出现症状(第一区域受累) - - - - 2期A 确诊 19 59 20.5 49.9 2期B 第二区域受累 19 28 17.5 29.0 3期 第三区域受累 13 13 9.8 12.3 4期A 需经皮胃肠造瘘 9 6 6.4 4.2 4期B 需无创通气 3 8 5.9 6.0 5期 死亡或机械通气 - - - - 表 3 肌萎缩侧索硬化米兰都灵分期评分[8]
域(项目) 评分及标准 域功能评分 活动 行走 4分.正常 0 3分.行走稍困难 0 2分.搀扶下可步行 0 1分.只有行走动作但不能移动 1 0分.缺乏有目的的腿部活动 1 自理 4分.正常 0 3分.可独立完成,但费力或效率低 0 2分.需间歇协助或用替代方法 0 1分.需他人协助 1 0分.完全依赖他人 1 吞咽 4分.正常饮食 0 3分.饮食稍有问题,偶有呛咳 0 2分.饮食习惯变化 0 1分.需鼻饲辅助 1 0分.不能经口进食,完全肠外或肠内营养 1 交流 言语 4分.正常言语 0 3分.可察觉言语欠清晰 0 2分.复述后可理解 0 1分.加入非语音性交流方式 1 0分.言语丧失 1 书写 4分.正常 0 3分.慢或杂乱,所有字清晰可辨 0 2分.非所有字均清晰可辨 0 1分.能握住笔,但不能写字 1 0分.握不住笔 1 呼吸 困难 4分.无 0 3分.行走时发生 0 2分.吃饭、洗澡或穿戴时发生 0 1分.休息时发生,坐或躺时均呼吸困难 1 0分.显著困难,考虑使用机械通气支持 1 功能不全 4分.无 0 3分.间歇使用NIPPV 0 2分.夜间连续使用NIPPV 0 1分.日夜连续使用NIPPV 1 0分.气管切开或插管,侵入性机械通气 1 -
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