Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups
PurposeGaucher disease is caused by a β-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.MethodsClinical findings at diagnosis, GBA mutations, and clinical courses w...
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doaj-fd7ea7283e5e42beb8e03a1da1103e322020-11-25T00:08:05ZengKorean Pediatric SocietyKorean Journal of Pediatrics1738-10612092-72582012-02-01552485310.3345/kjp.2012.55.2.482012550203Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroupsJu-Young Lee0Beom Hee Lee1Gu-Hwan Kim2Chang-Woo Jung3Jin Lee4Jin-Ho Choi5Han-Wook Yoo6Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.PurposeGaucher disease is caused by a β-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.MethodsClinical findings at diagnosis, GBA mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease.ResultsEleven 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 8.7±4.3 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.ConclusionAlthough 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.http://kjp.or.kr/upload/pdf/kjped-55-48.pdfNeuronopathic Gaucher diseaseNon-neuronopathic Gaucher diseaseGBA geneMutation |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Ju-Young Lee Beom Hee Lee Gu-Hwan Kim Chang-Woo Jung Jin Lee Jin-Ho Choi Han-Wook Yoo |
spellingShingle |
Ju-Young Lee Beom Hee Lee Gu-Hwan Kim Chang-Woo Jung Jin Lee Jin-Ho Choi Han-Wook Yoo Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups Korean Journal of Pediatrics Neuronopathic Gaucher disease Non-neuronopathic Gaucher disease GBA gene Mutation |
author_facet |
Ju-Young Lee Beom Hee Lee Gu-Hwan Kim Chang-Woo Jung Jin Lee Jin-Ho Choi Han-Wook Yoo |
author_sort |
Ju-Young Lee |
title |
Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups |
title_short |
Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups |
title_full |
Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups |
title_fullStr |
Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups |
title_full_unstemmed |
Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups |
title_sort |
clinical and genetic characteristics of gaucher disease according to phenotypic subgroups |
publisher |
Korean Pediatric Society |
series |
Korean Journal of Pediatrics |
issn |
1738-1061 2092-7258 |
publishDate |
2012-02-01 |
description |
PurposeGaucher disease is caused by a β-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.MethodsClinical findings at diagnosis, GBA mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease.ResultsEleven 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 8.7±4.3 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.ConclusionAlthough 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. |
topic |
Neuronopathic Gaucher disease Non-neuronopathic Gaucher disease GBA gene Mutation |
url |
http://kjp.or.kr/upload/pdf/kjped-55-48.pdf |
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