Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Department of Speech, Language and Swallowing Disorders, Massachusetts General Hospital, Boston, Massachusetts, USA.
Muscle Nerve. 2020 Dec;62(6):681-687. doi: 10.1002/mus.27039. Epub 2020 Aug 20.
Nephropathic cystinosis is a lysosomal storage disorder with late-onset systemic complications, such as myopathy and dysphagia. Currently employed outcome measures lack sensitivity and responsiveness for dysphagia and myopathy, a limitation to clinical trial readiness.
We evaluated 20 patients with nephropathic cystinosis in two visits over the course of a year to identify outcomes sensitive to detect changes over time. Patients also underwent an expiratory muscle strength training program to assess any effects on aspiration and dysphagia.
There were significant differences in the Timed Up and Go Test (TUG) and Timed 25-Foot Walk (25-FW) between baseline and 1-y follow-up (P < .05). Maximum expiratory pressure (MEP) and peak cough flow (PCF) significantly improved following respiratory training (P < .05).
Improved respiratory outcomes may enhance patients ability to expel aspirated material from the airway, stave off pulmonary sequelae associated with chronic aspiration, and yield an overall improvement in physical health and well-being.
遗传性胱氨酸贮积症是一种溶酶体贮积病，伴有晚期全身并发症，如肌病和吞咽困难。目前使用的结局评估方法对吞咽困难和肌病缺乏敏感性和反应性，这限制了临床试验的准备。
我们在一年的时间内对 20 名遗传性胱氨酸贮积症患者进行了两次就诊评估，以确定对随时间变化敏感的结局。患者还接受了呼气肌力量训练计划，以评估对吸入和吞咽困难的任何影响。
在基线和 1 年随访时，计时起立行走测试（TUG）和计时 25 英尺步行测试（25-FW）有显著差异（P <.05）。呼吸训练后最大呼气压力（MEP）和峰值咳嗽流量（PCF）显著改善（P <.05）。
呼吸功能的改善可能增强患者清除气道中吸入物的能力，避免与慢性吸入相关的肺部后遗症，并整体改善身体健康和幸福感。
