| Title | Characteristics of Pompe disease in China: a report from the Pompe registry |
| Authors | Zhao, Yuying Wang, Zhaoxia Lu, Jiahong Gu, Xuefan Huang, Yonglan Qiu, Zhengqing Wei, Yanping Yan, Chuanzhu |
| Affiliation | Shandong Univ, Qilu Hosp, 107 Wen Hua Xi Rd, Jinan, Shandong, Peoples R China Beijing Univ, Hosp 1, 8 Xi Shi Ku St, Beijing, Peoples R China Fudan Univ, Huashan Hosp, 12 Middle Wulumuqi Rd, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, 1665 Kong Jiang Rd, Shanghai, Peoples R China Guangzhou Women & Childrens Med Ctr, Xing Nan Ave, Guangzhou, Guangdong, Peoples R China Peking Union Med Coll Hosp, 9 Dongdan Santiao, Beijing, Peoples R China |
| Keywords | Pompe disease Pompe registry China Late onset Pompe disease |
| Issue Date | 2019 |
| Publisher | ORPHANET JOURNAL OF RARE DISEASES |
| Abstract | BackgroundPompe disease is a rare, progressive, autosomal recessive lysosomal storage disorder caused by mutations in the acid -glucosidase gene. This is the first report of Chinese patients from the global Pompe Registry. Chinese patients enrolled in the Registry (ClinicalTrials.gov, NCT00231400) between Jan 2013 and 2 Sep 2016 with late onset Pompe disease (LOPD; presentation after 12months of age or presentation at 12months without cardiomyopathy) were included. Data analyses were descriptive.ResultsOf the 59 Chinese patients included, 86.4% had never received enzyme replacement therapy (ERT). The age at symptom onset and diagnosis was 14.9 (12.35) and 22.1 (10.08) years, which is younger than previous reports of LOPD patients from the rest of the world (28.4 [18.86] and 34.9 [20.03], respectively). The most common diagnosis methods were enzyme assay (79.7%) and/or DNA analysis (61.0%). Of the 36 patients diagnosed using DNA analysis, 31 had standardized variant data and among these patients the most common mutations were c.2238G>C (n=18, 58.1%) and c.2662G>T (n=5, 16.1%). Chinese LOPD patients appeared to have worse lung function versus patients from the rest of the world, indicated by lower forced vital capacity (37.2 [14.00]% vs. 63.5 [26.71]%) and maximal expiratory and inspiratory pressure (27.9 [13.54] vs. 51.0 [38.66] cm H2O, and 29.4 [12.04] vs. 70.5 [52.78] cm H2O).ConclusionsCompared with patients from the rest of the world, Chinese patients with LOPD appeared to have younger age at symptom onset and diagnosis, lower lung function, and the majority had not received ERT. The most common mutations were c.2238G>C and c.2662G>T. |
| URI | http://hdl.handle.net/20.500.11897/543442 |
| ISSN | 1750-1172 |
| DOI | 10.1186/s13023-019-1054-0 |
| Indexed | SCI(E) |
| Appears in Collections: | 第一医院 |
