Enzyme Replacement Therapy in a Gaucher Family
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Date
2018
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Abstract
Gaucher disease is a lipid storage disorder due to deficiency of beta glucocerebrosidase. It's an autosomal recessive disease and as a result of this enzyme deficiency, glucocerebroside accumulates in various types of tissues like liver, brain spleen and bone marrow. We aimed to describe the effects of enzyme replacement therapy in three members of a family with Gaucher disease and to emphasize screening of the family members of the patients with Gaucher disease. Furthermore, late diagnosis and treatment in these patients have a minimal effect on improvement of the quality of life, and early diagnosis and treatment are very important in Gaucher disease. © 2017 National Medical Association
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Adolescent , DNA Mutational Analysis , Enzyme Replacement Therapy , Gaucher Disease , Glucosylceramidase , Hemoglobins , Humans , Male , Middle Aged , Splenomegaly , glucosylceramidase , glucosylceramide , hemoglobin , imiglucerase , glucosylceramidase , hemoglobin , imiglucerase , adolescent , adult , Article , blood cell count , blood smear , bone marrow biopsy , case report , clinical article , early diagnosis , ecchymosis , echography , enzyme replacement , epistaxis , family , family history , fatigue , follow up , Gaucher disease , gene mutation , hemoglobin blood level , hepatomegaly , hepatosplenomegaly , hip pain , homozygote , human , human tissue , knee pain , leukocyte count , leukopenia , male , middle aged , pancytopenia , platelet count , priority journal , quality of life , screening , splenectomy , splenomegaly , thrombocytopenia , complication , dna mutational analysis , Gaucher disease , genetics , splenomegaly