A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
Journal
Journal of Pediatrics
Journal Volume
148
Journal Issue
5
Pages
671-67600
Date Issued
2006
Author(s)
Abstract
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.
SDGs
Other Subjects
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
Publisher
Mosby Inc.
Type
journal article