Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England
Autor: | A. Broomfield, Clare E. Beesley, Karen Tylee, C. Stewart, Jane Roberts, S. Santra, Maureen Cleary, Anupam Chakrapani, Uma Ramaswami, Elisabeth Jameson, Simon Jones, S. Vijay, Julian Raiman, B. Schwahn, James Davison, Stephan Rust, S. Sreekantam, Pauline Hensman |
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Rok vydání: | 2020 |
Předmět: |
0301 basic medicine
Aortic valve congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Time Factors Adolescent Idursulfase Endocrinology Diabetes and Metabolism Disease 030105 genetics & heredity Biochemistry 03 medical and health sciences FEV1/FVC ratio 0302 clinical medicine Endocrinology Genetics medicine Humans Enzyme Replacement Therapy Lost to follow-up Child Carpal tunnel syndrome Molecular Biology Mucopolysaccharidosis II Retrospective Studies business.industry Data Collection Infant nutritional and metabolic diseases Hunter syndrome Enzyme replacement therapy medicine.disease Phenotype Treatment Outcome medicine.anatomical_structure England Child Preschool Disease Progression business 030217 neurology & neurosurgery Follow-Up Studies medicine.drug |
Zdroj: | Molecular Genetics and Metabolism. 129:98-105 |
ISSN: | 1096-7192 |
Popis: | The outcome of 110 patients with paediatric onset mucopolysaccharidosis II (MPS II) since the commercial introduction of enzyme replacement therapy (ERT) in England in 2007 is reported. Median length of follow up was 10 years 3 months (range = 1 y 2 m to 18 years 6 month). 78 patients were treated with ERT, 18 had no ERT or disease modifying treatment 7 had haematopoietic stem cell transplant, 4 experimental intrathecal therapy and 3 were lost to follow up. There is clear evidence of improved survival (median age of death of ERT treated (n = 16) = 15.13 years (range = 9.53 to 20.58 y), and untreated (n = 17) = 11.43 y (0.5 to 19.13 y) p = .0005). Early introduction of ERT improved respiratory outcome at 16 years, the median FVC (% predicted) of those in whom ERT initiated8 years = 69% (range = 34-86%) and 48% (25-108) (p = .045) in those started8 years. However, ERT appears to have minimal impact on hearing, carpal tunnel syndrome or progression of cardiac valvular disease. Cardiac valvular disease occurred in 18/46 (40%), with progression occurring most frequently in the aortic valve 13/46 (28%). The lack of requirement for neurosurgical intervention in the first 8 years of life suggests that targeted imaging based on clinical symptomology would be safe in this age group after baseline assessments. There is also emerging evidence that the neurological phenotype is more nuanced than the previously recognized dichotomy of severe and attenuated phenotypes in patients presenting in early childhood. |
Databáze: | OpenAIRE |
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