A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease - 10/08/11
, Wuh-Liang Hwu, MD, PhD a, b, c, d, e, Hanna Mandel, MD a, b, c, d, e, Marc Nicolino, MD, PhD a, b, c, d, e, Florence Yong, MS a, b, c, d, e, Deyanira Corzo, MD a, b, c, d, eInfantile-onset Pompe Disease Natural History Study Group
Reprint requests: Priya Sunil Kishnani, MD, Division of Medical Genetics, Department of Pediatrics, Box 3528, Duke University Medical Center, Durham, NC 27710.Résumé |
Objective |
To characterize the natural progression of infantile-onset Pompe disease.
Study design |
Retrospective chart reviews of 168 patients with documented acid ⍺-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.
Le texte complet de cet article est disponible en PDF.Abbreviations : BiPAP, CI, CPAP, CRIM, EKG, GAA, RR, SD
Plan
| Supported by Genzyme Corporation. |
Vol 148 - N° 5
P. 671 - mai 2006 Retour au numéro
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