Respiratory failure in Pompe disease: Treatment with noninvasive ventilation

Abstract
In this study, noninvasive ventilation (NIV) was prospectively applied to eight patients (35.8 ± 11.4 years) with late-onset Pompe disease and respiratory failure apparent from severe restrictive lung disease, nocturnal hypoxemia (83 ± 8%), and daytime hypercapnia (66.7 ± 17.9 mm Hg). The impact of NIV on respiratory function was followed for 34 ± 17 months. Despite further decrease of vital capacity and inspiratory muscle strength, NIV normalized oxygen saturation during sleep (96 ± 1%), daytime carbon dioxide tensions (44.1 ± 3.6 mm Hg), and symptoms.