Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 63-year-old man who was incidentally found to have thrombocytopenia at a periodic physical examination visited our hospital. The spleen was palpable 3 finger-breadths below the navel level, and the liver was palpable 1 finger-breadth below the right costal margin. Peripheral blood examination showed WBC 2,900/microl, Hb 13.4 g/dl, and platelets 54 X 10(3)/ microl. Gaucher cells were recognized in the bone marrow by aspiration, and serum levels of total acid phosphatase and angiotensin converting enzyme were increased. Glucocerebrosidase activity was lower than the control level in bone marrow stroma cells, and modification of glucocerebrosidase genotype N188S was shown, which had been identified in the past. Furthermore, neurological examination was normal. Based on these results, we diagnosed the patient with Gaucher disease type I, and started enzyme replacement therapy. Gaucher disease is rare in Japanese, approximately 100 cases having been reported; diagnosis at older age is also relatively rare and, as far as we know, the oldest age reported in Japanese was 57 years old. Gaucher disease should be considered a differential diagnosis when thrombocytopenia and splenomegaly are found in elderly patients, although it is relatively rare.
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PMID:[Gaucher disease type I diagnosed at 63 years old presenting with thrombocytopenia]. 1857 11

The response rates and overall survival of hairy cell leukemia has changed remarkably with cladribine. Twenty patients diagnosed as hairy cell leukemia over a 5 year period were evaluated. Median age of the patients was 52.5 years. Splenomegaly was seen in 85% and hepatomegaly in 50% patients. At presentation, pancytopenia was seen in 45% and bicytopenia in 20% patients. Tartrate resistant acid phosphatase was positive in 73.68%. Cladribine was given in 13 patients. Overall survival was 84.6%. Median duration of follow-up was 17 months (4-108 months). Direct Coombs' test positive autoimmune hemolytic anemia was seen in two patients (15.38%) on cladribine therapy who required treatment with steroids.
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PMID:The clinico-hematological profile of hairy cell leukaemia: a single centre experience. 2055 75

A 65 years old man was admitted with multiple lymphadenopathy, weight loss, night sweats and fatigue for 2 months. He had been treated for bladder cancer 2 years ago. Leukocyte count was 37.9 x10(9)/l. Peripheral blood smear had 91% lymphocytes. Lymphocytes had large nuclei with prominent nucleoli, heterogeneous appearance, and large cytoplasm with hairy projections. Flow cytometric immunophenotyping revealed CD20, CD22, CD24, CD45 and HLA-DR positivity. Atypical lymphocytes were stained with tartrate resistant acid phosphatase. Increased metabolic activity was detected in multiple lymph nodes, bone marrow and extremely enlarged spleen with positron emission tomography-computed tomography. Excisional biopsy of the left axillary lymph node revealed infiltration with diffuse B-cell leukemia/lymphoma. Immunohistochemistry showed CD20 positive atypical cells with weak expression of CD11c. The patient was diagnosed as a case of variant hairy cell leukemia and cladribine was administered. A probable second primary malignancy should be kept in mind in cases with a defined malignancy in the presence of unusual symptoms.
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PMID:Variant hairy cell leukemia following papillary urothelial neoplasm of bladder. 2471 96


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