Korean J Pediatr.  2012 Feb;55(2):48-53. 10.3345/kjp.2012.55.2.48.

Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups

• Lee JY
• Lee BH
• Kim GH
• Jung CW
• Lee J
• Choi JH
• Yoo HW

• KMID: 2284321
• DOI: http://doi.org/10.3345/kjp.2012.55.2.48

Abstract

PURPOSE
Gaucher disease is caused by a beta-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 8.7+/-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.
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.

Keyword

Neuronopathic Gaucher disease; Non-neuronopathic Gaucher disease; GBA gene; Mutation

MeSH Terms

Acid Phosphatase
Biomarkers
Central Nervous System
Cohort Studies
Gaucher Disease
Glucosylceramidase
Hexosaminidases
Humans
Hydrops Fetalis
Lymphoma, B-Cell
Muscle Hypotonia
Neurologic Manifestations
Paralysis
Protein-Losing Enteropathies
Seizures
Thrombocytopenia
Tremor
Acid Phosphatase
Glucosylceramidase
Hexosaminidases