Ruggeri Paolo, Lo Monaco Lucia, Musumeci Olimpia, Tavilla Graziana, Gaeta Michele, Caramori Gaetano, Toscano Antonio
Unità Operativa Complessa di Pneumologia, Dipartimento di Scienze Biomediche, Odontoiatriche e delle Immagini Morfologiche e Funzionali (BIOMORF), Università di Messina, Messina, Italy.
Unità Operativa Complessa di Neurologia e Malattie Neuromuscolari, Dipartimento di Medicina Clinica e Sperimentale, Università di Messina, Messina, Italy.
Neurol Sci. 2020 Aug;41(8):2175-2184. doi: 10.1007/s10072-020-04316-6. Epub 2020 Mar 11.
Late-Onset Pompe Disease (LOPD) is characterized by progressive limb-girdle muscle weakness and respiratory dysfunction. Diaphragm is the most impaired muscle in LOPD and its dysfunction cause major respiratory symptoms. The aim of this study was to evaluate the correlation between diaphragm thickness and mobility assessed by ultrasonography and respiratory function and muscle strength tests in patients with LOPD.
17 patients with LOPD (9 female, 47 ± 15 years) and 17 age and gender-matched healthy controls underwent spirometry, muscle strength testing, and ultrasound evaluation of diaphragm excursion and thickness.
The following parameters were significantly reduced in LOPD patients versus controls (all p < 0.001): forced vital capacity (FVC) in seated and supine position, maximum inspiratory and expiratory pressure (MIP and MEP), diaphragm excursion, thickness at functional residual capacity (FRC) and total lung capacity (TLC), and thickness fraction (TF). Ultrasound studies of diaphragm thickness at FRC correlated with MIP (r = 0.74; p < 0.0001) and seated FVC(r = 0.73; p < 0.05). Diaphragm thickness at TLC correlated with MIP (r = 0.85; p < 0.0001) and FVC in both seated (r = 0.77; p < 0.0001) and supine position (r = 0.68; p < 0.05). TF correlated significantly with MIP (r = 0.80; p < 0.001), FVC in both seated (r = 0.66; p < 0,005) and supine position (r = 0.61; p < 0.05). Interestingly diaphragm thickness at FRC correlated with disease duration (years) in LOPD patients (r = -0.53; p < 0,05). Ultrasound diaphragm mobility correlated with diaphragm thickness at TLC(r = 0.87; p < 0.0001), FRC (r = 0.84; p < 0.005) and TF (r = 0.73; p < 0.05). Moreover diaphragm mobility correlated with FVC in seated(r = 0.79; p < 0.005) and supine position(r = 0.74; p < 0.05) and MIP (r = 0.81; p < 0.005).
Diaphragm ultrasonography is a simple and reproducible technique for manage respiratory dysfunction in LOPD patients.
晚发型庞贝病（LOPD）的特征是进行性的肢带肌无力和呼吸功能障碍。膈肌是LOPD中受损最严重的肌肉，其功能障碍会导致主要的呼吸症状。本研究的目的是评估超声检查评估的膈肌厚度和活动度与LOPD患者呼吸功能及肌肉力量测试之间的相关性。
17例LOPD患者（9例女性，年龄47±15岁）和17例年龄及性别匹配的健康对照者接受了肺活量测定、肌肉力量测试以及膈肌活动度和厚度的超声评估。
与对照组相比，LOPD患者的以下参数显著降低（均p<0.001）：坐位和仰卧位的用力肺活量（FVC）、最大吸气和呼气压力（MIP和MEP）、膈肌活动度、功能残气量（FRC）和肺总量（TLC）时的厚度以及厚度分数（TF）。FRC时膈肌厚度的超声研究与MIP（r=0.74；p<0.0001）和坐位FVC（r=0.73；p<0.05）相关。TLC时膈肌厚度与MIP（r=0.85；p<0.0001）以及坐位（r=0.77；p<0.0001）和仰卧位（r=0.68；p<0.05）的FVC相关。TF与MIP（r=0.80；p<0.001）、坐位（r=0.66；p<0.005）和仰卧位（r=0.61；p<0.05）的FVC显著相关。有趣的是，LOPD患者FRC时的膈肌厚度与疾病持续时间（年）相关（r=-0.53；p<0.05）。超声检查的膈肌活动度与TLC（r=0.87；p<0.0001）、FRC（r=0.84；p<0.005）和TF（r=0.73；p<0.05）时的膈肌厚度相关。此外，膈肌活动度与坐位（r=0.79；p<0.005）和仰卧位（r=0.74；p<0.05）的FVC以及MIP（r=0.81；p<0.005）相关。
膈肌超声检查是管理LOPD患者呼吸功能障碍的一种简单且可重复的技术。
