[Outcome of two patients with Hurler's syndrome under enzyme replacement therapy with human recombinant alpha-L-iduronidase].
We performed a prospective study of two patients with Hurler's syndrome (aged 4.8 years and 17 months at the beginning of the intervention) under enzyme replacement therapy with human recombinant alpha-L-iduronidase for 452 and 28 weeks respectively. The aim of this study was to analyze the safety and efficacy of the intervention during the treatment periods. Several diagnostic imaging tests, clinical examinations, and serial laboratory determinations were performed to demonstrate the effectiveness of the therapy in both patients. In patient 1 (a boy aged 4.8 years, homozygote W402X), the treatment was always intended to be palliative because of the advanced stage of the disease. In patient 2 (a 17-month-old girl, heterozygote W402X) the treatment was initiated early with subsequent clinical stabilization without acquisition of regressive factors. Bone marrow transplantation from an unrelated donor was successful. Currently, because of the lack of histocompatible bone marrow donors, transplantation of hematopoietic stem cells from umbilical cord blood or peripheral blood are being performed with satisfactory results. In the future, gene therapy may be able to prevent the diseases associated with Hurler's syndrome and halt the neurocognitive deterioration characteristic of these patients.
Sardón
O
O
Unidad de Lactantes, Hospital Donostia, San Sebastián, España. osardon@chdo.osakidetza.net
García Pardos
C
C
Mintegui
J
J
Pérez Ruiz
E
E
Coll
M J
MJ
Chabás
A
A
Olivé
T
T
Ruiz Benito
A
A
D002675:Child, Preschool; D005260:Female; D006801:Humans; D007068:Iduronidase / Q000627:therapeutic use*; D007223:Infant; D008297:Male; D008059:Mucopolysaccharidosis I / Q000188:drug therapy*; D011446:Prospective Studies; D011994:Recombinant Proteins / Q000627:therapeutic use
D011994:Recombinant Proteins; D007068:Iduronidase