In Pompe disease (glycogen storage disease type II), acute respiratory failure represents the most frequent cause of death regardless of the rate of disease progression. This protocol addresses the specific presentation triggered by respiratory tract infection in patients who already have a known underlying ventilation defect.
Acute respiratory failure in this setting most commonly arises as a consequence of respiratory tract infection superimposed on a pre-existing ventilation defect. This combination — Pompe disease with established respiratory muscle compromise and an acute infectious trigger — defines a high-acuity presentation that requires prompt, structured management.
Acute respiratory failure is the most frequent cause of death independent of the rate of progression of disease.
It is more commonly a consequence of respiratory tract infection in patients with known ventilation defect.
Mechanical ventilation, preferably Non-Invasive Positive Pressure Ventilation (NPPV) to assist inspiratory muscles.
It should be noted that most patients have lower FVC in supine position due to poor diaphragmatic function; therefore, they should not lay totally flat, but be positioned in a (slightly) upright position.
Optimal oxygen supplement when required (maintain saturation between 92 and 94% and monitor PaCO2 and pH).
Airway secretion clearance through cough assist devices and other physiotherapeutic techniques.
Aggressive infection treatment.
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