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Title: Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region
Authors: Wuh Liang Hwu
Torayuki Okuyama
Wai Man But
Sylvia Estrada
Xuefan Gu
Joannie Hui
Motomichi Kosuga
Shuan Pei Lin
Lock Hock Ngu
Huiping Shi
Akemi Tanaka
Meow Keong Thong
Duangrurdee Wattanasirichaigoon
Pornswan Wasant
Jim McGill
National Taiwan University Hospital
National Center for Child Health and Development
Queen Elizabeth Hospital Hong Kong
University of the Philippines College of Medicine
Philippine General Hospital
National Institutes of Health, Bethesda
Shanghai Jiao Tong University School of Medicine
Prince of Wales Hospital Hong Kong
Mackay Memorial Hospital Taiwan
Kuala Lumpur Hospital
Peking Union Medical College
Osaka City University
University of Malaya
Mahidol University
Royal Children's Hospital Brisbane
Keywords: Biochemistry, Genetics and Molecular Biology;Medicine
Issue Date: 1-Sep-2012
Citation: Molecular Genetics and Metabolism. Vol.107, No.1-2 (2012), 136-144
Abstract: Introduction: Mucopolysaccharidosis (MPS) type VI (Maroteaux-Lamy syndrome) is a clinically heterogeneous lysosomal storage disorder. It presents significant diagnostic and treatment challenges due to the rarity of the disease and complexity of the phenotype. As information about MPS VI in Asia-Pacific countries is limited, a survey was conducted to assess current practices for diagnosis and management of MPS VI in this region. The participants were selected based on their experience in diagnosing and managing MPS patients. Methods: The survey comprised 29 structured quantitative or qualitative questions. Follow-up consultations were undertaken to discuss the data further. Results: Thirteen physicians from eight countries or regions (Australia, China, Hong Kong, Japan, Malaysia, Philippines, Taiwan and Thailand) were surveyed. At the time of the survey twenty-two patients with MPS VI were directly treated by the respondents and most (~80%) had rapidly progressing disease. A wide range of medical specialists are involved in managing patients with MPS VI, the most common being orthopedic surgeons, pediatricians and geneticists. The availability/accessibility of diagnostic tools, therapies and national insurance coverage vary greatly across the countries/regions and, in some cases, between different regions within the same country. Currently, there are national MPS management groups in Australia and Japan. Australia, Taiwan and Hong Kong have local guidelines for managing MPS and local MPS registries are available in Australia, Taiwan, and Japan. Conclusions: This survey highlights differences in the diagnosis and management of MPS VI between Asia-Pacific countries/regions. Important barriers to advancing the identification, understanding and treatment of MPS VI include the paucity of epidemiological information, limited access to laboratory diagnostics and therapies, low disease awareness, and a lack of monitoring and treatment guidelines. There is a clear need to facilitate communications between physicians and establish regional or national disease registries, a multidisciplinary referral network, and a centralized diagnostic and management framework. © 2012 Elsevier Inc.
ISSN: 10967206
Appears in Collections:Scopus 2011-2015

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