Early pathologic changes and responses to treatment in patients with later-onset Pompe disease
Journal
Pediatric Neurology
Journal Volume
46
Journal Issue
3
Pages
168-171
Date Issued
2012
Author(s)
Abstract
The treatment of later-onset Pompe disease with enzyme replacement therapy may not lead to significant improvement in muscle function, probably because of the irreversible muscle destruction caused by glycogen storage. A prospective study was performed to understand early muscle pathology in patients and the response of these pathologic changes to treatment. Five newborns and one child with later-onset Pompe disease but no signs at time of diagnosis were prospectively followed, and treatment was initiated when signs appeared. Six pretreatment biopsies taken at ages 1.5 months to 7 years indicated glycogen storage, lipid storage, stage 4 myocytes, and autophagic debris. Four 6-month posttreatment biopsies revealed glycogen clearance, but stage 4 myocytes and autophagic debris were still evident in three. In conclusion, among patients with later-onset Pompe disease and very mild signs, advanced pathologic changes were evident in a small portion of their myocytes. Because these pathologic changes may not respond to treatment, early treatment is necessary to achieve the best outcomes. ? 2012 Elsevier Inc. All rights reserved.
SDGs
Other Subjects
glycogen; lipid; recombinant glucan 1,4 alpha glucosidase; article; child; clinical article; clinical trial; glycogen storage disease type 2; human; human cell; human tissue; infant; lipid storage; muscle biopsy; muscle cell; pathology; preschool child; priority journal; prospective study; school child; treatment response; alpha-Glucosidases; Child; Child, Preschool; Enzyme Replacement Therapy; Female; Glycogen Storage Disease Type II; Humans; Infant; Male; Muscle, Skeletal; Prospective Studies; Treatment Outcome
Type
journal article