smitha
Forum Elite
Topics: 53
Posts: 236
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.A 25-year-old man of Eastern European Jewish descent is being evaluated for a right hip fracture and splenomegaly. He reports recurrent acute episodes of bone pains for the past 5 years. Complete blood count shows:
Erythrocyte count..............2,000,000/mm3
Leukocyte count................3,300/mm3
Platelet count....................70,000/mm3
X-ray films demonstrate multiple osteolytic lesions in the vertebral column and femurs. A bone marrow aspirate reveals clusters of histiocytes showing fibrillary cytoplasm with a typical "crumpled tissue paper" appearance. The fibrillary material in the cytoplasm is PAS-positive. Which of the following is the most effective treatment available for this condition?
a)Administration of pyridoxine and folate
b)Administration of hematin
c)Allogeneic bone marrow transplantation
d)Cytotoxic drugs such as hydroxyurea
e)High-carbohydrate diet
Replacement therapy with alglucerase
g)Splenectomy
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bm transplant.leukemia
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Replacement therapy with alglucerase for Gaucher type 1
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| dr_perfect_stranger
Forum Newbie
Topics: 2
Posts: 25
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BUZZ....... crumpled paper.....Its surely Gaucher's disease
i think replacement is ok
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| shirish_sss
Forum Senior
Topics: 32
Posts: 134
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IT'S AGLUCERASE DEFINITELY.....
IT'S AN ENZYME DRUG JUST RECENTLY APPROVED BY FDA FOR TREATMENT OF GAUCHER'S......
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good
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| smitha
Forum Elite
Topics: 53
Posts: 236
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YES , CORRECT!!!!!!!!!!!!!!!!!!!!!! 
The correct answer is
F.
Clinical manifestations and biopsy results are consistent with Gaucher disease, caused by deficiency of the enzyme glucocerebrosidase, which results in progressive accumulation of glucocerebroside within lysosomes of histiocytes. In the most common adult variant (type I), the most severely affected organs are the bone marrow, liver, and spleen. Bone marrow involvement accounts for progressive pancytopenia and bone fractures. Splenomegaly contributes to thrombocytopenia and anemia. The diagnosis is established by determination of glucocerebrosidase levels in circulating leukocytes. However, bone marrow biopsies are frequently performed to define the extent of marrow involvement. The most characteristic morphologic findings are Gaucher cells, large histiocytes with their cytoplasm engorged with glycolipid. In the US, the disease is most common among Ashkenazi Jews (of Eastern European origin). In the past, the treatment of this condition was limited to splenectomy (choice G), which ameliorates thrombocytopenia and anemia, but does not affect the other clinical manifestations, in particular bone fractures and hepatic dysfunction. A recent advance in therapy is a commercially available modified glucocerebrosidase named alglucerase. This agent is effective and safe, but extremely expensive. One-year therapy with alglucerase at the currently recommended regimen costs about $350,000. Recent studies indicate that lower dosages may be equally effective and lower the annual cost to $100,000.
Administration of pyridoxine and folate (choice A) is the most effective treatment to prevent mental retardation and recurrent thrombosis in those cases of homocystinuria that are due to deficiency of cystathionine β-synthase (approximately 50% of cases).
Administration of hematin (choice B) has been recently introduced in the treatment of acute intermittent porphyria, which manifests with recurrent attacks of abdominal pain and neuropsychiatric abnormalities. An effective and more practical therapeutic approach is a high-carbohydrate diet (choice E).
Allogeneic bone marrow transplantation (choice C) would not provide any benefit in Gaucher disease, since the underlying genetic defect is present in all cells of the organism.
Cytotoxic drugs such as hydroxyurea (choice D) are not useful for Gaucher disease. Hydroxyurea is frequently used in the therapy of chronic myelogenous leukemia, essential thrombocytosis, polycythemia vera, and sickle cell disease.
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