Cargando…

Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients

OBJECTIVE: Late-onset Pompe disease (LOPD) is a lysosomal storage disease resulted from deficiency of the enzyme acid α-glucosidase. Patients usually develop a limb-girdle pattern of myopathy and respiratory impairment, and enzyme replacement therapy (ERT) is the only specific treatment available. R...

Descripción completa

Detalles Bibliográficos
Autores principales: Sheng, Bun, Chu, Yim Pui, Wong, Wa Tai, Yau, Eric Kin Cheong, Chen, Sammy Pak Lam, Luk, Wing Hang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5534128/
https://www.ncbi.nlm.nih.gov/pubmed/28754168
http://dx.doi.org/10.1186/s13104-017-2681-y
_version_ 1783253732958404608
author Sheng, Bun
Chu, Yim Pui
Wong, Wa Tai
Yau, Eric Kin Cheong
Chen, Sammy Pak Lam
Luk, Wing Hang
author_facet Sheng, Bun
Chu, Yim Pui
Wong, Wa Tai
Yau, Eric Kin Cheong
Chen, Sammy Pak Lam
Luk, Wing Hang
author_sort Sheng, Bun
collection PubMed
description OBJECTIVE: Late-onset Pompe disease (LOPD) is a lysosomal storage disease resulted from deficiency of the enzyme acid α-glucosidase. Patients usually develop a limb-girdle pattern of myopathy and respiratory impairment, and enzyme replacement therapy (ERT) is the only specific treatment available. Recently, LOPD has been associated with low bone mineral density (BMD), but the effect of ERT on BMD is inconclusive. In this report we described our early observations on the change of BMD after ERT in Chinese LOPD patients. RESULTS: We studied four Chinese LOPD patients with different severities of myopathy. All were underweight, and three had osteoporosis at baseline. We found significant weight gain in three patients after ERT and all four patients showed improvement in BMD. The biggest improvement, 84.4% increase in BMD, was seen in a lady with the most prominent weight recovery. Our results suggest that ERT improves BMD in Chinese LOPD and weight gain could be a major contributor to this effect.
format Online
Article
Text
id pubmed-5534128
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-55341282017-08-03 Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients Sheng, Bun Chu, Yim Pui Wong, Wa Tai Yau, Eric Kin Cheong Chen, Sammy Pak Lam Luk, Wing Hang BMC Res Notes Research Note OBJECTIVE: Late-onset Pompe disease (LOPD) is a lysosomal storage disease resulted from deficiency of the enzyme acid α-glucosidase. Patients usually develop a limb-girdle pattern of myopathy and respiratory impairment, and enzyme replacement therapy (ERT) is the only specific treatment available. Recently, LOPD has been associated with low bone mineral density (BMD), but the effect of ERT on BMD is inconclusive. In this report we described our early observations on the change of BMD after ERT in Chinese LOPD patients. RESULTS: We studied four Chinese LOPD patients with different severities of myopathy. All were underweight, and three had osteoporosis at baseline. We found significant weight gain in three patients after ERT and all four patients showed improvement in BMD. The biggest improvement, 84.4% increase in BMD, was seen in a lady with the most prominent weight recovery. Our results suggest that ERT improves BMD in Chinese LOPD and weight gain could be a major contributor to this effect. BioMed Central 2017-07-28 /pmc/articles/PMC5534128/ /pubmed/28754168 http://dx.doi.org/10.1186/s13104-017-2681-y Text en © The Author(s) 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Note
Sheng, Bun
Chu, Yim Pui
Wong, Wa Tai
Yau, Eric Kin Cheong
Chen, Sammy Pak Lam
Luk, Wing Hang
Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients
title Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients
title_full Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients
title_fullStr Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients
title_full_unstemmed Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients
title_short Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients
title_sort improvement of bone mineral density after enzyme replacement therapy in chinese late-onset pompe disease patients
topic Research Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5534128/
https://www.ncbi.nlm.nih.gov/pubmed/28754168
http://dx.doi.org/10.1186/s13104-017-2681-y
work_keys_str_mv AT shengbun improvementofbonemineraldensityafterenzymereplacementtherapyinchineselateonsetpompediseasepatients
AT chuyimpui improvementofbonemineraldensityafterenzymereplacementtherapyinchineselateonsetpompediseasepatients
AT wongwatai improvementofbonemineraldensityafterenzymereplacementtherapyinchineselateonsetpompediseasepatients
AT yauerickincheong improvementofbonemineraldensityafterenzymereplacementtherapyinchineselateonsetpompediseasepatients
AT chensammypaklam improvementofbonemineraldensityafterenzymereplacementtherapyinchineselateonsetpompediseasepatients
AT lukwinghang improvementofbonemineraldensityafterenzymereplacementtherapyinchineselateonsetpompediseasepatients