https://scholars.lib.ntu.edu.tw/handle/123456789/470833
Title: | Early pathologic changes and responses to treatment in patients with later-onset Pompe disease | Authors: | YIN-HSIU CHIEN NI-CHUNG LEE PEI-HSIN HUANG WANG-TSO LEE Thurberg B.L. WUH-LIANG HWU |
Issue Date: | 2012 | Journal Volume: | 46 | Journal Issue: | 3 | Start page/Pages: | 168-171 | Source: | Pediatric Neurology | 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. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84863177732&doi=10.1016%2fj.pediatrneurol.2011.12.010&partnerID=40&md5=1affe354066cc329dc8c8b971cc35594 https://scholars.lib.ntu.edu.tw/handle/123456789/470833 |
ISSN: | 0887-8994 | DOI: | 10.1016/j.pediatrneurol.2011.12.010 | SDG/Keyword: | 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 |
Appears in Collections: | 病理學科所 |
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