MISC

2015年2月

Activities of daily living in patients with Hunter syndrome: Impact of enzyme replacement therapy and hematopoietic stem cell transplantation

MOLECULAR GENETICS AND METABOLISM
  • Julian Tanjuakio
  • Yasuyuki Suzuki
  • Pravin Patel
  • Erik Yasuda
  • Francyne Kubaski
  • Akemi Tanaka
  • Hiromasa Yabe
  • Robert W. Mason
  • Adriana M. Montano
  • Kenji E. Orii
  • Koji O. Orii
  • Toshiyuki Fukao
  • Tadao Orii
  • Shunji Tomatsu
  • 全て表示

114
2
開始ページ
161
終了ページ
169
記述言語
英語
掲載種別
DOI
10.1016/j.ymgme.2014.11.002
出版者・発行元
ACADEMIC PRESS INC ELSEVIER SCIENCE

The aim of this study was to assess the activities of daily living (ADL) in patients with Hunter syndrome (mucopolysaccharidosis II; MPS II) using a newly designed ADL questionnaire. We applied the questionnaire to evaluate clinical phenotypes and therapeutic efficacies of enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT). We also explored early signs and symptoms to make early diagnosis feasible. We devised a new ADL questionnaire with three domains: "movement," "movement with cognition," and "cognition." Each domain has four subcategories rated on a 5-point scale based on level of assistance. We also scored signs and symptoms unique to MPS by 12 subcategories (five points per category), providing 60 points in total. The questionnaire was first administered to 138 healthy Japanese controls (0.33-50 years), and successively, to 74 Japanese patients with Hunter syndrome (4-49 years). The patient cohort consisted of 51 severe and 23 attenuated phenotypes; 20 patients treated with HSCT, 23 patients treated early with ERT (<= 8 years), 25 patients treated late with ERT (>8 years), and 4 untreated patients. Among 18 severe phenotypic patients treated by HSCT, 10 were designated as early HSCT (<= 5 years), while 8 were designated as late HSCT (>5 years).
Scores from patients with severe phenotypes were lower than controls and attenuated phenotypes in all categories. Among patients with severe phenotypes, there was a trend that HSCT provides a higher ADL score than early ERT, and there was a significant difference in ADL scores between late ERT and HSCT groups. Early ERT and early HSCT provided a higher score than late ERT and late HSCT, respectively.
In conclusion, we have evaluated the feasibility of a new questionnaire in control population and patients with Hunter syndrome, leading to a novel evaluation method for clinical phenotypes and therapeutic efficacy. Early treatment with HSCT provides a better consequence in ADL of patients. (C) 2014 Elsevier Inc. All rights reserved.

リンク情報
DOI
https://doi.org/10.1016/j.ymgme.2014.11.002
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000348973100302&DestApp=WOS_CPL
URL
http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=84921644517&origin=inward
ID情報
  • DOI : 10.1016/j.ymgme.2014.11.002
  • ISSN : 1096-7192
  • eISSN : 1096-7206
  • Web of Science ID : WOS:000348973100302

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