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.
Key words:
Glycogen storage disease type Ⅱ,
Respiratory insufficiency,
Ventilator weaning,
Enzyme replacement therapy
摘要：
目的 探讨糖原贮积病Ⅱ型患儿撤机困难对策。方法 2015 年 10 月至 2017 年 9 月共治疗 6 例撤机困难的糖原贮积病Ⅱ型患儿（儿童型 3 例、婴儿型 3 例），综合治疗措施包括抗生素治疗呼吸机相关肺炎、鼓励自主咳痰、自主呼吸锻炼、增加营养、心理支持等，以及重组人α-葡糖苷酶替代治疗［20 mg/ （kg·次）、1 次/2 周］并序贯呼吸机撤机（有创呼吸机过渡至无创呼吸机再撤机）。结果 6 例患儿经重组人α-葡糖苷酶替代治疗和序贯呼吸机撤机综合治疗后，呼吸功能和四肢肌力均得到改善，3 例成功撤机、1 例撤机失败、2 例死亡。结论 糖原贮积病Ⅱ型患儿经预防呼吸机相关肺炎、自主呼吸锻炼、增加营养，以及重组人α-葡糖苷酶替代治疗等综合治疗后，可使呼吸功能和四肢肌力改善，然后尝试程序化撤机可提高撤机困难患儿的撤机成功率。
关键词:
糖原贮积病Ⅱ型,
呼吸功能不全,
通气机撤除法,
酶替代疗法
XU Ling-ling, LIANG Yu-jian, LI Su-ping, HUANG Xue-qiong, ZHANG Li-dan, PEI Yu-xin, HUANG Hui-min, ZHANG Cheng, TANG Wen, FAN Zhong. Countermeasures of six difficult-to-wean patients with severe glycogen storage disease type Ⅱ[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2019, 19(6): 393-398.
徐玲玲, 梁玉坚, 李素萍, 黄雪琼, 张丽丹, 裴瑜馨, 黄慧敏, 张成, 唐雯, 樊重. 重型糖原贮积病Ⅱ型呼吸机撤机困难的对策[J]. 中国现代神经疾病杂志, 2019, 19(6): 393-398.