Better BMT for Hurler syndrome--on the level?

摘要

In this issue of Blood, Boelens et al report transplantation outcomes for the largest cohort assembled to date of patients with Hurler syndrome, demonstrating key associations with survival and outlining approaches that result in higher levels of alpha-L-iduronidase, the enzyme missing in this devastating disorder. I recessive disease, which is generally recognized only after developmental delay, hepatosplenomegaly, dwarfism, and typical facial changes become apparent in the first 2 years of life. Untreated children become progressively neurologically devastated and generally die of heart failure, although intravenous enzyme replacement therapy can partially mitigate some non-neurologic organ complications (eg, lung, liver, skeletal). The major challenges to these children-neurologic and cardiac deterioration-can be halted, however, with swift and effective allogeneic hematopoietic cell transplantation (HCT).