https://scholars.lib.ntu.edu.tw/handle/123456789/526010
標題: | A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease | 作者: | Kishnani P.S. WUH-LIANG HWU Mandel H. Nicolino M. Yong F. Corzo D. |
公開日期: | 2006 | 出版社: | Mosby Inc. | 卷: | 148 | 期: | 5 | 起(迄)頁: | 671-67600 | 來源出版物: | Journal of Pediatrics | 摘要: | Objective: To characterize the natural progression of infantile-onset Pompe disease. Study design: Retrospective chart reviews of 168 patients with documented acid α-glucosidase deficiency and symptom onset by 12 months of age; Kaplan-Meier analysis of total and ventilator-free survival time; Cox proportional hazards regression modeling of mortality risk factors. Results: The median age at symptom onset was 2.0 months (range 0 to 12 months), 4.7 months at diagnosis (range: prenatal to 4.2 months), 5.9 months at first ventilator support (range 0.1 to 31.1 months), and 8.7 months at death (range 0.3 to 73.4 months). Survival rates at 12 months of age were 25.7% overall and 16.9% ventilator-free; at 18 months 12.3% and 6.7%. Cardiomegaly (92%), hypotonia (88%), cardiomyopathy (88%), respiratory distress (78%), muscle weakness (63%), feeding difficulties (57%), and failure to thrive (53%) appeared after a median age of ?4.0 months. Multiple covariate analysis confirmed that early symptom onset increased risk of early death. Conclusion: Despite frequent therapeutic interventions, infantile-onset Pompe disease remains lethal. ? 2006 Elsevier Inc. All rights reserved. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-33646830132&doi=10.1016%2fj.jpeds.2005.11.033&partnerID=40&md5=c83682ab963ecb02e22abc7c95dade2e https://scholars.lib.ntu.edu.tw/handle/123456789/526010 |
ISSN: | 0022-3476 | DOI: | 10.1016/j.jpeds.2005.11.033 | SDG/關鍵字: | alpha glucosidase; article; cardiomegaly; cardiomyopathy; congenital malformation; controlled study; death; demography; disease course; enzyme assay; enzyme deficiency; failure to thrive; family history; feeding disorder; female; glycogen storage disease type 2; human; infant; major clinical study; male; medical record; mortality; muscle hypotonia; muscle weakness; newborn; priority journal; respiratory distress; retrospective study; risk factor; survival time; symptom; ventilator |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。