Liječnički vjesnik, Vol. 137 No. 7-8, 2015.
Professional paper
MANAGEMENT GUIDELINES FOR MUCOPOLYSACCHARIDOSIS TYPE VI IN ADULTS
Diana Muačević-Katanec
Ivan Pećin
Iveta Šimić
Ksenija Fumić
Kristina Potočki
Nediljko Šućur
Željko Reiner
Abstract
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome, MPS VI) is a progressive multisystemic lysosomal storage disease. Physical symptoms generally include growth retardation, and bone dysplasia. Enzyme replacement therapy is the treatment of choice and is done with recombinant version of enzyme N-acetylgalactosamine 4-sulfatase (galsulfase) which is administered intravenously. The enzyme replacement therapy should be applied once a week as a life–long treatment. Division of metabolic diseases, Department of internal medicine, University Hospital Center Zagreb continues with the treatment of MPS VI patients after they turn 18 years of life and are not treated any more by the pediatricians. The aim of this document is to provide the guidelines for diagnosis and management of adult patients with MPS VI which consists not only of regular galsulfase adiministration, but also of regular follow up and treatment of numerous comorbidities. These guidelines were produced by experts from the Division of metabolic diseases, Department of internal medicine, University Hospital Center Zagreb which is the Referral center for rare and metabolic diseases of the Ministry of Health, Republic of Croatia. The guidelines are result of collaboration with pediatricians, radiologists and biochemists without whose experience and advices appropriate treatment of these patients would not be possible. The guidelines were endorsed by the Croatian society for rare diseases, Croatian Medical Association.
Keywords
Mucopolysaccharidosis VI – diagnosis, drug therapy; N-acetylgalactosamine-4-sulfatase – therapeutic use; recombinant proteins – therapeutic use; Enzyme replacement therapy; Practice guidelines as topic; Croatia
Hrčak ID:
172709
URI
Publication date:
2.9.2015.
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