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Gaucher disease in Montenegro-genotype/phenotype correlations:Five cases report

World Journal of Clinical Cases 2019年第12期7卷 1475-1482页

作者： Snezana Vujosevic Sanja Medenica vesko vujicic Milena Dapcevic Nikola Bakic Ruhua Yang Jun Liu Pramod K Mistry Department of Endocrinology Internal Medicine Clinic Clinical Center of Montenegro Faculty of Medicine University of Montenegro Podgorica 81000 Montenegro Hematology Department Internal Medicine Clinic Clinical Center of Montenegro Faculty of Medicine University of Montenegro Podgorica 81000 Montenegro Yale Lysosomal Disease Center and Inherited Metabolic Liver Disease Clinic Yale University School of Medicine New Haven CT 06510 United States

BACKGROUND The most common lysosomal storage disorder is Gaucher disease (GD). It is a deficiency of lysosomal glucocerebrosidase (GBA) due to biallelic mutations in the GBA gene, characterized by the deposition of glucocerebroside in macrophage-monocyte system cells. The report targets clinical phenotypes of GD in order to correlate them with GBA gene mutations, as well as to identify GBA gene mutation in patients in Montenegro that are diagnosed with GD. CASES SUMMARY Five patients (4 male, 1 female) of type 1 GD (GD1) are reported. The age at diagnosis ranged from 7 to 40. Patients experienced delays of 1-12 years in diagnosis after the original onset of symptoms. The most common mode of presentation was a variable degree of splenomegaly and thrombocytopenia, while other symptoms included bone pain, hepatomegaly, abdominal pain and fatigue. Osteopenia was present in a majority of the patients: 4/5. All patients were found to have an asymptomatic Erlenmeyer flask deformity of the distal femur. On enzyme replacement therapy (ERT), the hematological and visceral parameters showed significant improvement, but no significant progression in bone mineral density was noticed. GBA gene sequencing revealed homozygosity for the N370S mutation in one patient. The genotypes of the other patients were N370S/55bp deletion, N370S/D409H (2 patients), and H255Q/N370S (1 patient). CONCLUSION The phenotypes of the GD1 encountered in Montenegro were severe but all responded well to ERT.

关键词： Gaucher disease Lysosomal storage disorder Glucocerebrosidase GBA gene sequencing Genotype Case report

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