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Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report
Snezana Vujosevic1, Sanja Medenica2, Vesko Vujicic3
1Department of Endocrinology, Internal Medicine Clinic, Clinical Center of Montenegro, Faculty of Medicine, University of Montenegro, Podgorica 81000, Montenegro.
World Journal of Clinical Cases
|August 1, 2019
Summary
Gaucher disease (GD) patients in Montenegro present with severe phenotypes but respond well to enzyme replacement therapy (ERT). Genetic analysis identified common GBA gene mutations, aiding in diagnosis and treatment strategies for this lysosomal storage disorder.
Area of Science:
- Genetics
- Biochemistry
- Medical Science
Background:
- Gaucher disease (GD) is a common lysosomal storage disorder caused by GBA gene mutations.
- It results in glucocerebroside accumulation in macrophage-monocyte cells.
- This study investigates GD phenotypes and GBA mutations in Montenegrin patients.
Observation:
- Five patients with type 1 GD (GD1) were analyzed, with diagnosis delays ranging from 1 to 12 years.
- Common symptoms included splenomegaly, thrombocytopenia, bone pain, and hepatomegaly.
- Osteopenia and Erlenmeyer flask deformity were noted in most patients.
Findings:
- Enzyme replacement therapy (ERT) significantly improved hematological and visceral parameters.
- No significant bone mineral density progression was observed with ERT.
- GBA gene sequencing revealed various mutations, including N370S homozygosity and compound heterozygosity.
Implications:
- Understanding GBA mutations and clinical phenotypes aids GD diagnosis in Montenegro.
- ERT is effective for managing GD1 symptoms.
- Further research can refine genotype-phenotype correlations for personalized GD treatment.
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