Van der Beek N A M E, Hagemans M L C, Reuser A J J, Hop W C J, Van der Ploeg A T, Van Doorn P A, Wokke J H J
Erasmus MC, University Medical Center, Department of Neurology, 's-Gravendijkwal 230, 3015 CE Rotterdam, The Netherlands.
Neuromuscul Disord. 2009 Feb;19(2):113-7. doi: 10.1016/j.nmd.2008.11.007. Epub 2008 Dec 11.
To determine the rate of disease progression in patients with late-onset Pompe disease, we collected longitudinal data on pulmonary function and skeletal muscle strength in 16 patients whose symptoms had started in childhood or adulthood. The mean duration of follow-up was 16 years (range 4-29 years). During the follow-up period, eight patients (50%) became wheelchair bound and three (19%) became ventilator dependent. At a group level, pulmonary function deteriorated by 1.6% per year, and proximal muscle weakness progressed gradually. At the individual level, however, the rate and extent of progression varied highly between patients. In two thirds of patients, pulmonary function and muscle strength declined simultaneously and to the same extent. The remaining one third of patients showed a variable, sometimes rapidly progressive course, leading to early respirator or wheelchair dependency. These individual differences, especially in pulmonary dysfunction, indicate the need for regular monitoring every 6-12 months depending on the rate of disease progression.
为了确定晚发型庞贝病患者的疾病进展速度，我们收集了16例症状始于儿童期或成年期患者的肺功能和骨骼肌力量的纵向数据。平均随访时间为16年（范围4 - 29年）。在随访期间，8例患者（50%）需要依赖轮椅，3例患者（19%）需要依赖呼吸机。在组水平上，肺功能每年恶化1.6%，近端肌肉无力逐渐进展。然而，在个体水平上，患者之间的进展速度和程度差异很大。三分之二的患者肺功能和肌肉力量同时下降且程度相同。其余三分之一的患者表现出可变的、有时快速进展的病程，导致早期依赖呼吸机或轮椅。这些个体差异，尤其是肺功能障碍方面的差异，表明需要根据疾病进展速度每6 - 12个月进行定期监测。
