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KMID : 0918520130130020111
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Journal of the Korean Society of Inherited Metabolic Disease
2013 Volume.13 No. 2 p.111 ~ p.119
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Effect of Enzyme Replacement Therapy on Growth in Korean Patients with Mucopolysaccharidosis Type I
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Huh Rimm
Cho Sung-Yoon
Chang Mi-Sun
Lee Ji-Eun
Kwun Young-Hee
Kim Su-Jin
Sohn Young-Bae
Pack Sung-Won
Maeng Se-Hyun
Kwon Eun-Kyung
Han Sun-Ju
Jung Joo-Youn
Jin Dong-Kyu
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Abstract
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Purpose: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by deficiency of the enzyme α-L-iduronidase, which leads to a broad spectrum of multisystemic manifestations. Short stature and decreased growth velocity are prominent features of MPS I. The aim of the present study was to evaluate the effect of enzyme replacement therapy (ERT) on growth of Korean MPS I patients from a single center.
Methods: Height data were obtained by retrospective chart review of 10 Korean patients with MPS I who had received ERT for a minimum of 3 years. Height was expressed as standard deviation scores (SDS) based on normative data. Annual growth rates were calculated before and during ERT. A piecewise regression model was used to analyze height z-scores before and after treatment. Individual analysis was performed for impact of phenotype [(severe (Hurler) versus attenuated
(Hurler-Scheie, Scheie)] on growth.
Results: Annual growth was 3.3 cm (z-score= -0.21) in the year before ERT and 6.2 cm (z-score= 0.17), 5.8 cm (z-score= 0.07), and 3.8 cm (z-score= -0.4) in the first, second, and third years of ERT, respectively. Regression analysis showed improvement in the slope after ERT (difference= 0.04; P=0.022). Estimated slope differences between severe and attenuated phenotypes were statistically significant before (P=0.001) and after treatment (P<0.0001), although no significant difference was noted when stratified by phenotype.
Conclusion: ERT with aldurazyme appears to have a positive impact on linear growth in patients with MPS I.
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KEYWORD
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Mucopolysaccharidosis type I, Hurier, Scheie, Enzyme replacement therapy, Aldurazyme, Growth
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