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KMID : 0367420050480101132
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Journal of Korean Pediatric Society
2005 Volume.48 No. 10 p.1132 ~ p.1138
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Clinical and Laboratory Features of Korean
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Sohn Woo-Youn
Lee Jee-Hyun
Kwon Eun-Kyung
Kim Ahn-Hee
Paik Kyung-Hoon
Jin Dong-Kyu
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Abstract
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Purpose: The mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders. They are caused by a deficiency of the enzymes involved in the degradation of glycosaminoglycans. Early recognition is important because recombinant enzyme replacement therapy is now available for MPS. We studied the clinical characteristics of 80 MPS children with the object of determining the epidemiological, clinical and radiological features in Korean MPS children.
Methods: Diagnosis of MPS was confirmed by skin fibroblast enzyme analysis in 80 patients between February 1995 and December 2004. Charts were retrospectively reviewed for clinical and radiological findings, as well as for intelligence and speech evaluations.
Results: Hunter syndrome (MPS type II) was the most prevalent type, appearing in 51/80 cases (64 %), followed by Sanfilippo syndrome (MPS III-18%), Hurler syndrome (MPS I-15%), and Morquio syndrome (MPS IV-4%). The average age at diagnosis was 5.5 years (range 1 to 20), and the male-to-female ratio was 4.7:1. Typical radiographic changes were observed in 45/54 cases (83%). Mitral regurgitation was the most common cardiac defect. Moderate to profound mental retardation and hearing loss were present in 14/35 cases (56%) and 33/38 cases (82%), respectively. Four MPS II patients had bone marrow transplantation, with mixed outcomes. Five MPS I patients are currently on enzyme replacement therapy.
Conclusion: Our study showed a high proportion of MPS II cases (64%), which may represent population variability. By studying the clinical features of these patients, we hope to alert pediatricians of the warning signs of MPS.
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KEYWORD
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Mucopolysaccharidoses, Clinical, Laboratory, Incidence, Korea
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