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Korean J Pediatr 2012 February;55(2) :48-53.
Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups
Ju-Young Lee (Lee JY)1, Beom Hee Lee (Lee BH), Gu-Hwan Kim (Kim GH)2, Chang-Woo Jung (Jung CW)1, Jin Lee (Lee J)1, Jin-Ho Choi (Choi JH)1, Han-Wook Yoo (Yoo HW)
Department of Pediatrics, Medical Genetics Center, Asan Medical Center Children`s Hospital, University of Ulsan College of Medicine, Seoul, Korea
1Department of Pediatrics, Asan Medical Center Children`s Hospital, University of Ulsan College of Medicine, Seoul, Korea
2Medical Genetics Center, Asan Medical Center Children`s Hospital, University of Ulsan College of Medicine, Seoul, Korea
Corresponding Author: Han-Wook Yoo ,Tel: +82-2-3010-3374, Fax: +82-2-473-3725, Email:
Copyright © 2012 by The Korean Pediatric Society
Purpose : Gaucher disease is caused by a -glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population. Methods : Clinical findings at diagnosis, GBA mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease. Results : Eleven patients were diagnosed with non-neuronopathic type, 2 with acute neuronopathic type, and 7 with chronic neuronopathic type. Most patients presented with hepatosplenomegaly, thrombocytopenia, and short stature. In the neuronopathic group, variable neurological features, such as seizure, tremor, gaze palsy, and hypotonia, were noted at age 8.74.3 years. B cell lymphoma, protein-losing enteropathy, and hydrops fetalis were the atypical manifestations. Biomarkers, including chitotriosidase, acid phosphatase, and angiotensin-converting enzyme, increased at the initial evaluation and subsequently decreased with enzyme replacement treatment (ERT). The clinical findings, including hepatosplenomegaly, thrombocytopenia, and skeletal findings, improved following ERT, except for the neurological manifestations. L444P was the most common mutation in our cohort. One novel mutation, R277C, was found. Conclusion : Although the clinical outcome for Gaucher disease improved remarkably following ERT, the outcome differed according to subtype. Considering the high proportion of the neuronopathic form in the Korean population, new therapeutic strategies targeting the central nervous system are needed, with the development of a new scoring system and biomarkers representing clinical courses in a more comprehensive manner.
Keywords: Neuronopathic Gaucher disease | Non-neuronopathic Gaucher disease | GBA gene | Mutation
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