Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.6.1.2 (alanine aminotransferase)
 26,722 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The patient is 48 year-old female who has been followed as MCTD with nonsteroidal therapies for 18 years. Sometimes she has been attached by focal severe muscle pain. One year ago, she had general myalgia associated with high fever and arthralgia. The results of the examination, aldolase, GOT, GPT, gamma-GTP, CRP and leucocyte were increased. Muscle biopsy showed noncaseating epithelioid granuloma being in contact with enlarged injected vessels. Out of tough with granuloma, a few fibre necroses, fibrosis of muscle, and degeneration of collagen fiber were recognized. After treatment of nonsteroidal antiinflammatory agents, her every complain was removed. Her muscle looks normal herself. MCTD has myopathy caused by inflammatory infiltrates and fibre necroses. But granulomatous myositis is very rare. It is difficult to differentiate our case from sarcoidosis, especially acute isolated muscle sarcoidosis.
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PMID:[A case of mixed connective tissue disease associated with uncommon acute myopathy caused by isolated muscle epithelioid granuloma]. 221 39

The patient was a woman of forty-eight. Liver dysfunction was pointed out at the age of forty-five. She was admitted to hospital because of her hyperthyroidism. Her palmar skin was wet and her fingers were swollen like sausages. She had a diffuse and elastic hard goiter with a rough surface. The serum levels of free T3 (9.6 pg/mL) and free T4 (3.76 ng/dL) were high and that of TSH (0.11 microU/mL) was low. The activity of TSH-binding inhibitory immunoglobulin (TBII) was 89%. The uptake rate of 123I to the thyroid was 55.1% and the uptake pattern was nearly diffuse. The goiter was proved to contain several nodules by ultrasonography, but aspiration cytology showed no malignant cells. She was diagnosed to have Graves' disease with adenomatous goiter. She also had high ALT (34 IU/L) and gamma-globulin (1.97 g/dL). She had positive antinuclear antibody (speckled type), positive anti-ribosomal nuclear protein antibody, and positive LE cell phenomenon. The liver biopsy revealed mononuclear cell infiltration with fibrosis in the portal area. These data indicated that she also had autoimmune hepatitis (AIH) and mixed connective tissue disease (MCTD). The analysis of human leukocyte antigen (HLA) showed positive A11 which had been reported to relate to Graves' disease, and positive DR4 which had been reported to relate to AIH and MCTD. These results suggested that HLA would determine susceptibility to three distinct autoimmune diseases in this case.
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PMID:A case of Graves' disease associated with autoimmune hepatitis and mixed connective tissue disease. 1042 83