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Effect of rapid cessation of enzyme replacement therapy: A report of 5 cases and a review of the literature.
MedLine Citation:
PMID:  22926198     Owner:  NLM     Status:  Publisher    
Enzyme replacement therapy (ERT) is a treatment modality available for several of the lysosomal storage diseases including mucopolysaccharidosis type II (MPS II). We report a series of patients with MPS II (n=5, age range at the start of ERT 11-21years, median 15years) and the effects of ERT cessation (range 2-8months, median 3months) on their clinical status. Additionally, we review previously published cases. In our series, a worsening of the patients' clinical status was observed. Symptoms after ERT discontinuation included recurrent respiratory infections (severe pneumonia) with respiratory insufficiency (80%), difficulty with walking/standing (60%), increased joint stiffness (40%), but also decreased hematological parameters (40%), renal insufficiency (40%) and death (20%). The literature review confirms that the beneficial clinical effects of ERT are soon lost if treatment is discontinued in MPS I and Pompe patients. Conclusions: 1. Rapid cessation of ERT results not only in the loss of the beneficial effects, but in a significant worsening of the patient's clinical status. 2. Decisions about the introduction of ERT, especially in patients severely affected, should be made carefully. 3. Once started, it is essential to keep an adequate administration schedule of ERT to maintain the clinical benefits of enzyme therapy.
Agnieszka Jurecka; Zbigniew Zuber; Violetta Opoka-Winiarska; Grzegorz Węgrzyn; Anna Tylki-Szymańska
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-8-17
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  -     ISSN:  1096-7206     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2012 Aug 
Date Detail:
Created Date:  2012-8-28     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Elsevier Inc. All rights reserved.
Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland; Department of Molecular Biology, University of Gdańsk, Gdańsk, Poland.
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