摘要：Abstract Patients with Hunter syndrome (mucopolysaccharidosis II) present with skeletal dysplasia including short stature as well as {CNS} and visceral organ involvement. A previous study on Hunter syndrome indicated an impact on brain and heart involvement after hematopoietic stem cell therapy (HSCT) at an early stage but little impact after enzyme replacement therapy (ERT) (Tanaka et al. 2012). Meanwhile, impact on growth in patients with Hunter syndrome treated with {ERT} and {HSCT} has not been compared until now. We recently developed baseline growth charts for untreated patients with Hunter syndrome to evaluate the natural history of growth of these patients compared to unaffected controls (Patel et al., 2014). To assess impact of {ERT} and {HSCT} on growth, clinical data were obtained from 44 Japanese male patients with {MPS} II; 26 patients had been treated with ERT, 12 patients had been treated with HSCT, and 6 had been treated with both {ERT} and HSCT. Height and weight were compared to untreated patients and unaffected controls from the previous study. We demonstrated 1) that {MPS} {II} patients, who had been treated with either {ERT} or HSCT, had increased height and weight when compared to untreated patients, and 2) that {HSCT} and {ERT} were equally effective in restoring growth of {MPS} {II} patients. In conclusion, {HSCT} should be considered as one of the primary therapeutic options for early stage treatment of {MPS} II, as {HSCT} has also been reported to have a positive effect on brain and heart valve development (Tanaka et al. 2012).
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