Abstract:
Background Late-onset glycogen storage disease typeⅡ(GSDⅡ, Pompe disease) is an autosomal recessive disease exhibiting progressive proximal skeletal muscle weakness and respiratory muscle involvement, caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA). Most of patients died of respiratory failure. Methods Eleven patients with late-onset glycogen storage disease type Ⅱ underwent respiratory function evaluation, whose diagnosis was confirmed by muscle pathology, GAA activity assay and gene analysis. Respiratory function evaluation included upright and supine position of forced vital capacity (FVC), forced expiratory volume at the first second (FEV1), maximal inspiratory pressure (MIP), maximal expiratory pressure (MEP) and cough peak flow (CPF). All data were compared with predicted value. The decreased value between upright and supine position FVC ( △ FVC) were calculated. The correlation between respiratory function and the age of onset, disease course, motor function, GAA activity were analyzed. Results All of 11 patients with late-onset glycogen storage disease type Ⅱ showed declined respiratory function compared with predicted value. The upright FVC, upright FEV1, △ FVC, MIP, MEP and CPF declined in 10, 10, 8, 11, 10, and 10 patients, respectively. All patients had normal FEV1/FVC in both upright and supine position. There was no correlation between upright FVC, △ FVC and the onset age, disease course, motor function, GAA activity statistically. Conclusions Pulmonary dysfunction is common in late-onset glycogen storage disease type Ⅱ, with restrictive ventilatory impairment more predominant, which is caused by inspiratory muscle weakness.
Key words:
Glycogen storage disease typeⅡ,
Alpha-glucosidases,
Respiratory function tests
摘要： 研究背景 晚发型糖原贮积病Ⅱ型（又称Pompe 病）是一种主要累及骨骼肌的全身性遗传代谢性疾病，由溶酶体内酸性α-葡糖苷酶活性缺乏所致。呼吸衰竭是主要死亡原因。方法 对11 例经酶学、肌肉病理检查和基因突变分析证实的晚发型Pompe 病患者进行立卧位用力肺活量（FVC）、第1 秒用力呼气量（FEV1）、最大吸气压（MIP）、最大呼气压（MEP）和咳嗽峰流速（CPF）测试，与预测值进行对比并计算立位至卧位FVC 变化（△FVC）百分比，分析呼吸功能与发病年龄、病程、运动功能、α-葡糖苷酶活性之间的关联性。结果 11 例患者均存在肺功能异常，其中立位FVC 和FEV1 下降者各10 例、△FVC 下降者8 例、MIP 下降者11 例、MEP 下降者10 例、CPF 下降者10 例；卧立位FEV1/FVC 均于正常值范围。相关分析显示，立位FVC 和△FVC 与患者发病年龄、病程、运动功能、α-葡糖苷酶活性不存在关联性。结论 呼吸功能障碍在晚发型Pompe 病中较为常见。呼吸功能障碍主要表现为限制型通气障碍，以吸气肌无力突出。
关键词:
糖原贮积病Ⅱ型,
α葡糖苷酶类,
呼吸功能试验
JIN Wei-na, QUE Cheng-li, TANG Hai-yan, HUANG Yu, WANG Zhao-xia, LIU Xiao, Lü He, ZHANG Wei, YUAN Yun. Clinical study of respiratory function in patients with late-onset glycogen storage disease typeⅡ[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2014, 14(5): 399-404.
金巍娜, 阙呈立, 唐海燕, 黄昱, 王朝霞, 刘潇, 吕鹤, 张巍, 袁云. 晚发型糖原贮积病Ⅱ型患者呼吸功能临床研究[J]. 中国现代神经疾病杂志, 2014, 14(5): 399-404.