Respiratory failure in Pompe disease: treatment with noninvasive ventilation.
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.
Mellies
U
U
Department of Pediatrics and Pediatric Neurology, University of Essen, Essen, Germany. uwe.mellies@uni-essen.de
Stehling
F
F
Dohna-Schwake
C
C
Ragette
R
R
Teschler
H
H
Voit
T
T
D000293:Adolescent; D000328:Adult; D004417:Dyspnea / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D006009:Glycogen Storage Disease Type II / Q000150:complications / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D006935:Hypercapnia / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D000860:Hypoxia / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D008875:Middle Aged; D018908:Muscle Weakness / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D011446:Prospective Studies; D012121:Respiration, Artificial / Q000639:trends*; D012131:Respiratory Insufficiency / Q000209:etiology / Q000503:physiopathology / Q000628:therapy*; D012132:Respiratory Muscles / Q000378:metabolism / Q000503:physiopathology; D012891:Sleep Apnea Syndromes / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D016896:Treatment Outcome; D014797:Vital Capacity / Q000502:physiology