Clinical study of respiratory function in patients with late-onset glycogen storage disease typeⅡ
<p><strong>Background</strong> 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-glucos...
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| Format: | Article |
| Language: | English |
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Tianjin Huanhu Hospital
2014-05-01
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| Series: | Chinese Journal of Contemporary Neurology and Neurosurgery |
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| Online Access: | http://www.cjcnn.org/index.php/cjcnn/article/view/951 |
| _version_ | 1819149192452374528 |
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| author | Wei-na JIN Cheng-li QUE Hai-yan TANG Yu HUANG Zhao-xia WANG Xiao LIU He LÜ Wei ZHANG Yun YUAN |
| author_facet | Wei-na JIN Cheng-li QUE Hai-yan TANG Yu HUANG Zhao-xia WANG Xiao LIU He LÜ Wei ZHANG Yun YUAN |
| author_sort | Wei-na JIN |
| collection | DOAJ |
| description | <p><strong>Background</strong> 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. <strong>Methods</strong> 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. <strong>Results</strong> 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. <strong>Conclusions</strong> 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.</p><p> </p><p>doi: 10.3969/j.issn.1672-6731.2014.05.007</p> |
| first_indexed | 2024-12-22T13:57:42Z |
| format | Article |
| id | doaj.art-4f6e26d8dcfe4491a65f78c10814e247 |
| institution | Directory Open Access Journal |
| issn | 1672-6731 |
| language | English |
| last_indexed | 2024-12-22T13:57:42Z |
| publishDate | 2014-05-01 |
| publisher | Tianjin Huanhu Hospital |
| record_format | Article |
| series | Chinese Journal of Contemporary Neurology and Neurosurgery |
| spelling | doaj.art-4f6e26d8dcfe4491a65f78c10814e2472022-12-21T18:23:31ZengTianjin Huanhu HospitalChinese Journal of Contemporary Neurology and Neurosurgery1672-67312014-05-01145399404950Clinical study of respiratory function in patients with late-onset glycogen storage disease typeⅡWei-na JIN0Cheng-li QUE1Hai-yan TANG2Yu HUANG3Zhao-xia WANG4Xiao LIU5He LÜ6Wei ZHANG7Yun YUAN8Department of Neurology, Peking University First Hospital, Beijing 100034, ChinaDepartment of Respiration, Peking University First Hospital, Beijing 100034, ChinaDepartment of Respiration, Peking University First Hospital, Beijing 100034, ChinaDepartment of Genetics, Peking University Health Science Center, Beijing 100191, ChinaDepartment of Neurology, Peking University First Hospital, Beijing 100034, ChinaDepartment of Neurology, Peking University First Hospital, Beijing 100034, ChinaDepartment of Neurology, Peking University First Hospital, Beijing 100034, ChinaDepartment of Neurology, Peking University First Hospital, Beijing 100034, ChinaDepartment of Neurology, Peking University First Hospital, Beijing 100034, China<p><strong>Background</strong> 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. <strong>Methods</strong> 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. <strong>Results</strong> 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. <strong>Conclusions</strong> 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.</p><p> </p><p>doi: 10.3969/j.issn.1672-6731.2014.05.007</p>http://www.cjcnn.org/index.php/cjcnn/article/view/951Glycogen storage disease typeⅡAlpha-glucosidasesRespiratory function tests |
| spellingShingle | Wei-na JIN Cheng-li QUE Hai-yan TANG Yu HUANG Zhao-xia WANG Xiao LIU He LÜ Wei ZHANG Yun YUAN Clinical study of respiratory function in patients with late-onset glycogen storage disease typeⅡ Chinese Journal of Contemporary Neurology and Neurosurgery Glycogen storage disease typeⅡ Alpha-glucosidases Respiratory function tests |
| title | Clinical study of respiratory function in patients with late-onset glycogen storage disease typeⅡ |
| title_full | Clinical study of respiratory function in patients with late-onset glycogen storage disease typeⅡ |
| title_fullStr | Clinical study of respiratory function in patients with late-onset glycogen storage disease typeⅡ |
| title_full_unstemmed | Clinical study of respiratory function in patients with late-onset glycogen storage disease typeⅡ |
| title_short | Clinical study of respiratory function in patients with late-onset glycogen storage disease typeⅡ |
| title_sort | clinical study of respiratory function in patients with late onset glycogen storage disease typeii |
| topic | Glycogen storage disease typeⅡ Alpha-glucosidases Respiratory function tests |
| url | http://www.cjcnn.org/index.php/cjcnn/article/view/951 |
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