Abstract |
We aimed to establish the profile of Irish patients with Hunter Syndrome ( Mucopolysaccharidosis type II, MPS II) receiving weekly intravenous Enzyme Replacement Therapy (ERT) with recombinant iduronate-2-sulfatase and to assess the social impact and parental opinion of ERT through the use of a parental questionnaire. Nine patients aged 3.5- 14 years have received a mean of 2 (range 0.5-3.5) years of ERT. Treatment was associated with clinical improvements from baseline in hepatosplenomegaly in 6/7 (85%) respiratory manifestations in 4/6 (67%) and a mean reduction in urinary glycosaminoglycan excretion of 62%. Changes noted by parents included increased energy 3/9 (33%) and softening of skin, hair and facial features 8/9 (89%). Parents report that seven hours weekly were spent on hospitalizations for ERT. Parental employment was adversely affected in 8 (89%) families. One day of school/preschool (20%) was lost every week for 8 (89%) children. All parents believed the benefits of ERT out-weigh the difficulties involved. All families would welcome the introduction of home based therapy. In conclusion the social and educational burden of hospital-based ERT on these children and their families is significant. The introduction of home-based therapy is likely to improve overall quality of life for MPSII patients and their families.
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Authors | M Buraczewska, D O'Leary, O Walsh, A Monavari, E Crushell |
Journal | Irish medical journal
(Ir Med J)
Vol. 106
Issue 4
Pg. 120-2
(Apr 2013)
ISSN: 0332-3102 [Print] Ireland |
PMID | 23691848
(Publication Type: Letter)
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Chemical References |
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Topics |
- Adolescent
- Attitude
- Child
- Child, Preschool
- Enzyme Replacement Therapy
- Female
- Home Care Services
- Humans
- Iduronate Sulfatase
(administration & dosage, therapeutic use)
- Ireland
- Male
- Mucopolysaccharidosis II
(drug therapy)
- Parents
- Surveys and Questionnaires
- Time Factors
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