Abstract
BackgroundGlycogen storage disease type II (GSD II) is caused by acid alpha-glucosidase (GAA) deficiency. Both infantile-onset and juvenile-onset GSD II lead to proximal muscle weakness and respiratory insufficiency and require mechanical ventilation. However, GSD II is also independently associated with delayed weaning from mechanical ventilation. This study aimed to describe a comprehensive approach including sequential invasive-noninvasive mechanical ventilation weaning and enzyme replacement therapy (ERT) in patients with weaning difficulties.Case presentationWe studied six difficult-to-wean GSD II (three juvenile-onset, three infantile-onset) patients at the First Affiliated Hospital, Sun Yat-sen University from October 2015 to December 2017. Difficulty in weaning was defined as follows: the need for more than three spontaneous breathing trials or more than 1 week to achieve successful weaning. All patients received comprehensive treatment including sequential invasive-noninvasive mechanical ventilation weaning, ERT and general treatment. Recombinant human acid alpha-glucosidase enzyme therapy (20 mg/kg every 14 days) was used after diagnosis, and Patients 1–6 received ERT for 15.5, 4.5, 2, 2.5, 17, and 2 months, respectively. The therapeutic effect of the comprehensive treatment was observed.The patients’ respiratory function and limb muscle strength improved after each ERT session. Patients who successfully completed a spontaneous breathing trial could proceed to extubation, and then start non-invasive ventilation. The patients’ age range at initial mechanical ventilation was 3–47 (median 26.5) months, duration of invasive ventilation was 1–36 (median 2.75) months, and duration of noninvasive ventilation was 0–0.6 (median 0.05) month. The patients’ nutritional status improved after enhanced nutritional support. Patients 2, 3, and 5 were successfully weaned off the ventilator. Patient 1 underwent tracheal intubation after six weaning failures, and Patients 4 and 6 died after therapy was abandoned by their parents.Discussion and conclusionsMale sex, GSD II type, and the presence of malnutrition and neurological impairment may predict poor respiratory outcomes. The above-described comprehensive sequential invasive-noninvasive mechanical ventilation weaning strategy may increase the success rate of weaning from mechanical ventilation.
Highlights
Glycogen storage disease type II (GSD II) is caused by acid alpha-glucosidase (GAA) deficiency
Glycogen storage disease type II (GSD II), known as Pompe disease, is an autosomal recessive inherited metabolic disorder caused by a deficiency of acid alpha-glucosidase (GAA); it manifests as muscle weakness, hypertrophic cardiomyopathy, and respiratory failure [1]
ERT enzyme replacement therapy, GSD II Glycogen storage disease type II, P patient no apatient died after abandoning treatment; — untreated
Summary
Glycogen storage disease type II (GSD II) is caused by acid alpha-glucosidase (GAA) deficiency Both infantile-onset and juvenile-onset GSD II lead to proximal muscle weakness and respiratory insufficiency and require mechanical ventilation. Glycogen storage disease type II (GSD II), known as Pompe disease, is an autosomal recessive inherited metabolic disorder caused by a deficiency of acid alpha-glucosidase (GAA); it manifests as muscle weakness, hypertrophic cardiomyopathy, and respiratory failure [1]. Infantile-onset GSD II is the most severe form of the disease, and is characterized by hypertrophic cardiomyopathy, muscle weakness and early death, generally caused by cardio-respiratory insufficiency as natural history. Prolonged mechanical ventilation is known to result in increased pulmonary complications and costs [4], as well as increased lengths of hospital stay and clinical scores
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