Early response to idursulfase treatment in a 3 year-old boy affected of Hunter syndrome

Abstract We present a 3-year-old boy affected with Hunter syndrome. When we first evaluated the patient glycosaminoglycans (GAG) in urine were elevated (94.6 ng/nmol/creatinine); the enzyme activity determined in serum was decreased (3.9 nmol/hxml) and the mutation found was N350H, exon 8. His clini...

Full description

Saved in:
Bibliographic Details
Published in:European journal of medical genetics 2008-05, Vol.51 (3), p.268-271
Main Authors: Galán-Gómez, Enrique, Guerrero-Rico, Ana, Cáceres-Marzal, Cristina, Zambrano-Castaño, Moises, Moreno-Tejero, María-Luisa, Grande-Tejada, Ana-María, Fernández-Hernández, Santiago, Vaquerizo-Madrid, Julián, Cardesa-García, Juan J
Format: Article
Language:English
Subjects:
Biological and medical sciences
Carbohydrates (enzymatic deficiencies). Glycogenosis
Child, Preschool
Early treatment
Errors of metabolism
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genetics of eukaryotes. Biological and molecular evolution
Humans
Hunter syndrome
Iduronate Sulfatase - therapeutic use
Idursulfatase
Male
Medical Education
Medical genetics
Medical sciences
Metabolic diseases
Mucopolysaccharidosis II - drug therapy
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Abstract We present a 3-year-old boy affected with Hunter syndrome. When we first evaluated the patient glycosaminoglycans (GAG) in urine were elevated (94.6 ng/nmol/creatinine); the enzyme activity determined in serum was decreased (3.9 nmol/hxml) and the mutation found was N350H, exon 8. His clinical signs were coarse facial features, hepatomegaly (6 cm), splenomegaly (6 cm), elbow stiffness and hypospadias; dilatation of the perivascular spaces and white matter abnormalities, mitral regurgitation. After two weeks on enzyme replacement therapy (ERT) with idursulfase (IDS), the excretion of GAG was decreased to 36.2 ng/nmol/creatinine and the liver and spleen volumes were reduced to normal limits. He was subsequently noted to have a softer, finer skin, he had no further bouts of bronchitis, and his physical activity improved. This indicates that IDS in young children is well tolerated and that it has several effects which may confer clinical benefits with long-term therapy.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2008.02.005