Countermeasures of six difficult-to-wean patients with severe glycogen storage disease type Ⅱ

Abstract

Objective To explore the treatment of difficult-to-wean patients with glycogen storage disease type Ⅱ (GSDⅡ) complicated with respiratory failure. Methods A total of 6 patients with GSDⅡ (3 children and 3 infants) who were admitted due to weak respiratory muscle and had difficulty in weaning off ventilator were treated in our hospital from October 2015 to September 2017. They received comprehensive treatment of antibiotics for ventilator-associated pneumonia, encouraging voluntary expectoration, respiratory muscle exercises, nutrition strengthening, psychological support, and enzyme replacement treatment (ERT) by using recombinant human acid α-glucosidase [rhGAA, 20 mg/(kg·time), once/biweekly]. These patients gradually transformed from invasive ventilator at biphasic positive airway pressure (BiPAP) mode and continuous positive airway pressure (CPAP) mode to non-invasive ventilator and high flow oxygen therapy. Results The respiratory function and limb muscle strength of all patients were improved after ERT and sequential weaning. With comprehensive treatment, 3 patients weaned off ventilator, one patient underwent endotracheal intubation, and 2 patients died. Conclusions With comprehensive treatment of preventing ventilator-associated pneumonia, respiratory muscle exercises, nutrition strengthening, and ERT using rhGAA, the respiratory function and limb muscle strength were improved in GSD Ⅱ patients. Programmed weaning procedure increases the treatment success rate of difficult-to-wean patients. DOI: 10.3969/j.issn.1672-6731.2019.06.004

Keywords

• Glycogen storage disease type Ⅱ
• Respiratory insufficiency
• Ventilator weaning
• Enzyme replacement therapy