Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Systemic mastocytosis (SM), as opposed to cutaneous-only mastocytosis, implies the presence of neoplastic mast cell infiltration in extracutaneous tissue. Mast cell disease in adults is often systemic and often involves the bone marrow. Typical clinical and laboratory features of SM include urticaria pigmentosa, mast cell mediator symptoms (eg, headache, flushing, lightheadedness, urticaria and pruritus, nausea, diarrhea, abdominal pain, and vasodilatory shock), bone pain (eg, osteoporosis, lytic bone lesions, and fractures), hepatosplenomegaly, cytopenia, eosinophilia, elevated serum tryptase and histamine, and bone marrow fibrosis and angiogenesis. SM may be indolent (no evidence of organ dysfunction), aggressive (presence of organ dysfunction), associated with another often chronic myeloid hematologic disease (SM-AHD), or present as mast cell leukemia or sarcoma. Mast cell-mediator symptoms are treated with histamine antagonists and cromolyn sodium. Indolent SM does not require cytoreductive therapy. Aggressive SM and SM-AHD are managed based on their molecular profile. Recent information suggests that FIP1-like-1-platelet-derived growth factor receptor-alpha(+) SM responds well to imatinib mesylate, whereas interferon-alpha should be considered as a first-line treatment in all of the other cases, including patients with Asp816Val(+) SM. Cladribine has been shown to be effective in patients who develop resistance to interferon treatment.
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PMID:Systemic mastocytosis: current concepts and treatment advances. 1508 68

Chronic eosinophilic leukemia is a rare entity, characterized by eosinophilia of >1.5 x 10(9)/L, persisting for >6 months after exclusion of other reactive and neoplastic causes of eosinophilia, and occurring in association with a clonal cytogenetic abnormality. Various chromosomal abnormalities have been associated with chronic eosinophilic leukemia. Partial deletion of the long arm of chromosome 16 is a cytogenetic abnormality first reported 20 years ago in patients with acute myeloid leukemia associated with bone marrow eosinophilia (AML-M4Eo). We report a case of a 45-year-old African-American male with hepatitis C and sustained peripheral blood eosinophilia who presented with gross hematuria, dyspnea on exertion, chills, decreased appetite and weight loss of 40 pounds associated with hepatosplenomegaly and lymphadenopathy. Bone marrow biopsy showed clonal cytogenetic abnormality consisting of deletion of the long arm of chromosome 16 (16q22). Philadelphia chromosome t (9;22) and polymerase chain reaction (PCR) analysis for C-kit and platelet-derived growth factor receptor-alpha (PDGFRA) mutations were negative. The patient was treated with imatinib at 400 mg/d with improvement of symptoms, reduction of lymphadenopathy and normalization of the eosinophil count. To our knowledge, this is the first case report of isolated del (16) (q22), a cytogenetic abnormality associated with AML-M4Eo, occurring in chronic eosinophilic leukemia. Whether this cytogenetic abnormality might represent a prodromal phase of AML-M4Eo is not known. In addition, the role of hepatitis C in inducing clonal proliferation of eosinophils is unclear.
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PMID:Case of chronic eosinophilic leukemia with deletion of chromosome 16 and hepatitis C. 1691 38

Chronic cough is caused by a wide variety of disease conditions, including asthma, rhino-sinusitis and gastro-oesophageal reflux. We describe the case of a 42-year-old man with hypereosinophilic syndrome presenting with chronic dry cough. The cough did not respond to inhaled corticosteroid or leucotriene receptor antagonists. Hepatosplenomegaly was noted and the patient became anaemic and thrombocytopenic. He was refractory to treatment with hydroxyurea and interferon-alpha. Administration of imatinib resulted in complete resolution of eosinophilia and cough, without the use of anti-asthma drugs. Analysis of RNA from this patient demonstrated expression of the Fip1-like 1/platelet-derived growth factor receptor-alpha (FIP1L1-PDGFRA) fusion gene. The myeloproliferative variant of hypereosinophilic syndrome may cause chronic intractable cough, and a trial of imatinib treatment may be warranted.
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PMID:A case of hypereosinophilic syndrome presenting with chronic cough successfully treated with imatinib. 1919 29

Only a few cases of various glomerulonephropathies have been reported in patients with polycythemia vera. We report the case of a 72-year-old female with polycythemia vera in whom renal biopsy examination showed membranoproliferative glomerulonephritis (MPGN)-like lesion and glomerular expression of plasmalemmal vesicle-associated protein-1 (PV-1), a marker of glomerular capillary remodeling after injury. Prior to admission to our hospital for nephrotic syndrome, she had received hydroxyurea and phlebotomy. On admission, she was hypertensive with pretibial edema, hepatosplenomegaly, massive proteinuria (6.14 g/day), low serum albumin (2.9 g/dl), high fibrinogen, fibrin/fibrinogen degradation products and thrombomodulin levels, but with normal serum creatinine and complement levels. Microscopic examination of a renal biopsy demonstrated MPGN-like features with double contour and mesangial interposition. Electron microscopy showed subendothelial deposits, platelets attached to glomerular capillary walls and fibrin deposition. Immunofluorescence study identified IgM deposition along part of the capillary wall and mesangium. CD42b-positive platelets and megakaryocytes were detected in glomerular capillaries, accompanied with increased expression of platelet-derived growth factor receptor b and thrombomodulin in the mesangium and glomerular capillary, respectively. PV-1 was expressed along the glomerular capillary. Anti-platelet and anticoagulant combination therapy, together with the use of anti-hypertensive agents and hydroxyurea, resulted in improvement of the nephrotic syndrome. The findings suggested that activated platelets, enhanced coagulation state and endothelial damage may contribute to glomerulonephropathy associated with polycythemia vera.
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PMID:Histopathological manifestations of membranoproliferative glomerulonephritis and glomerular expression of plasmalemmal vesicle-associated protein-1 in a patient with polycythemia vera. 2097 49