| Abstrakt: |
Bone marrow transplant has proved to be an effective treatment in some hereditary metabolic diseases and, especially, in mucopolysdaccharidosis (MPS). A 9-year-old girl, of consanguineous parents, with MPS Type I, Hurler-Scheie syndrome, received a BMT from her heterozygous, HLA-compatible mother. -L-iduronidase activity in leukocytes and fibroblasts was undetectable and glycosaminoglycans (GAG) excretion in urine was very high. BMT conditioning treatment consisted of Busulfan (16 mg/kg) and Cyclophosphamide (120 mg/kg); clinical course was uneventful. Sixty days post-BMT iduronidase activity in leukocytes was similar to that of the donor and GAG levels were normal at 12 months. Echocardiography showed regression in hypertrophic myocardiopathy. Previously enlarged and vacuole-filled skin fibroblasts became reduced in size and vacuole content. The most notable clinical effects were: improved facial features, increased height, disappearance of visceromegalies, gradual clearing of corneal opacities with improved vision and reduced joint stiffness. It is concluded that the gradual deterioration in patients with MPS-I may be arrested and many clinical features improved by BMT. |
