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 patient with asymptomatic hypocholesterolemia, mild hyperbilirubinemia, and splenomegaly was found, on lipoprotein analysis, to have Tangier disease (alpha-lipoprotein deficiency). He represents the first patient with the disease in the northeastern Unit States. Although free of clinical evidence of atherosclerosis at age 38 years, the patient has widespread tissue cholesterol ester deposition and a stron family history of atherosclerosis. Tangier disease may be much underdiagnosed; it should be suspected in every patient with hypocholesterolemia.
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PMID:Tangier disease (alpha-lipoprotein deficiency). 19

A patient with familial primary shunt hyperbilirubinemia is described. Splenomegaly, arthritis, and iron overload were striking features of the illness.
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PMID:Primary shunt hyperbilirubinemia with secondary iron overload: a case report. 46 32

Three siblings of a Kurdish Jewish family with clinical and hematologic findings compatible with congenital dyserythropoietic anemia (CDA) are described. All patients presented with mild anemia, marked hyperbilirubinemia and splenomegaly. The bone marrow morphology and ultrastructure of the normoblasts was typical of CDA type II and there was strong agglutination of the patients' red blood cells by anti-i serum. These patients displayed two features that were not characteristic of CDA type II, namely, the acidified serum lysis test was negative on more than 10 occasions, and high levels of Hb A2 were observed in two siblings. In one of the siblings, abnormal globin-chain synthesis was found and alpha-chain production exceeded beta-chain production, as in beta-thalassemia minor. In the light of the above findings, our patients are perhaps best classified as having aberrant CDA with features of thalassemia.
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PMID:Aberrant congenital dyserythropoietic anemia with negative acidified serum tests and features of thalassemia in a Kurdish family. 75 May 40

Five adult patients presenting with clinical and laboratory manifestations of an acute hepatitis in the course of a hitherto undiagnosed infectious mononucleosis (IM) are reviewed. Chief complaints were intense malaise and prolonged fever (7 to 15 days prior to diagnosis). Serum aminotransferases were moderately raised in all patients; three patients had mild jaundice with a direct-reacting hyperbilirubinemia; 4 patients had an enlarged and tender liver. When making the differential diagnosis of causes of acute hepatitis, blood smear examination was crucial, showing atypical lymphocytes (Downey). The diagnosis of IM was confirmed by the demonstration of high serum titers of antibodies against Epstein-Barr virus, IgM class (4 patients) or heterophil antibodies (1 patient), plus peripheral lymph node enlargement (3 patients), splenomegaly (4 patients) and the time course of the disease. The relevance of blood smear examination as a practical tool in the diagnosis of causes of acute hepatitis is stressed.
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PMID:[Hepatitis by infectious mononucleosis]. 166 92

We retrospectively studied the incidence of familial hemophagocytic lymphohistiocytosis (FHL) in children during the 16-year period 1971-86. First, all departments of pediatrics, pathology, and infectious diseases were enquired for children with FHL or disorders resembling FHL. Secondly, the causes of death of all children who died during the study period in Sweden (n = 19,542) were also investigated. Files and histological specimens were further studied in selected children. By using a set of inclusion/exclusion criteria, we found 32 children with FHL. The incidence was 1.2/1,000,000 children per year. One child per 50,000 live borns developed FHL during this period. The sex ratio was close to 1:1. Prominent early clinical signs were fever (91%), splenomegaly (84%), hepatomegaly (90%), rash (43%), and lymph node enlargement (42%). Neurological symptoms, which developed in 47%, could totally dominate the clinical picture and develop prior to other symptoms and signs. Common laboratory findings were pancytopenia, hypertriglyceridemia, hypofibrinogenemia, elevated serum transaminases, hyperbilirubinemia, hyponatremia, hypoalbuminemia, and a moderate spinal fluid pleocytosis. Chest X-ray often revealed mostly discrete pulmonary infiltrates. FHL is an underdiagnosed disease and in only 11/32 children was diagnosis made during their lifetime. It is important to be aware of the disorder as potential therapy now exists.
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PMID:Incidence in Sweden and clinical features of familial hemophagocytic lymphohistiocytosis. 205 92

Spherocytosis conditions the severe destruction of red blood cells. The spleen plays an active and fundamental role in this destruction since it is responsible for the fragility and lability of the red blood cell to the splenic medium. The clinical manifestations are: anemia, jaundice, splenomegaly, and hemolytic and aplastic crisis associated to viral infections. Choledocholithiasis is a manifestation of the disease which can be seen at an early stage, even in less severe cases. Choledocholithiasis is rare and this may be due to immediate surgical intervention. The levels of indirect bilirubin may vary but usually do not exceed 10 mg%, on the rising of direct bilirubin may cause suspicion of liver obstruction or damage. A case of a ten year old boy is reported who was found to have spherocytosis, with severe manifestations, who later developed cholelithiasis and total obstruction of the choledocho and in who the most important clinical manifestation was jaundice due to the increase of total bilirubin to 89 mg%, doubly checked. Both a splenectomy and a cholecystectomy were performed. Subsequent checkups were normal. These levels of bilirubin have not been previously reported. Hyperbilirubinemia; spherocytosis; choledocholithiasis.
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PMID:[Extreme hyperbilirubinemia associated with spherocytosis and choledocholithiasis]. 233 61

Thirty six patients with culture-proven enteric fever and 15 patients of fever with etiology other than enteric fever as a control group were studied, with special reference to hepatic dysfunction and its relation to clinical features of the disease. Hepatomegaly was observed in 55% of enteric fever patients, and was slightly more common than splenomegaly (50%). Its incidence in typhoid fever (67%) was three times higher than in paratyphoid fever (22%). Hepatic dysfunction occurred in 55% of cases. Jaundice was noted in only 8% of the cases, whereas hyperbilirubinemia (serum bilirubin greater than 1.8 mg %) was present in 17%. Although hepatic manifestations of enteric fever were mild, a small but important group had sufficient hepatic involvement to mimick the clinical picture seen in viral hepatitis, amebic liver disease, and malaria with jaundice. It may be considered of clinical significance, since enteric hepatitis responds very well to specific therapy.
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PMID:The spectrum of hepatic injury in enteric fever. 312 48

Studies were performed to characterize the toxic effects of human rIL-2 in mice and to examine the mechanism of toxicity. Intraperitoneal administration of rIL-2 at doses greater than or equal to 2 X 10(6) U/kg twice each day for greater than or equal to 4 days led to toxicity in several strains of mice. The toxic effects of rIL-2 included the vascular leak syndrome (manifested by pulmonary edema, pleural effusions, and ascites), elevated hepatic transaminases, hyperbilirubinemia, hypoalbuminemia, pre-renal azotemia, anemia, thrombocytopenia, mild eosinophilia, and death. Marked lymphoid cell infiltration of pulmonary and hepatic vasculature was present in mice suffering from rIL-2 toxicity, and the pleural and ascitic fluids also contained high numbers of mononuclear cells. Mononuclear cells isolated from the pleural fluids and livers of these mice were 74 to 98% Thy-1+, 55 to 83% asialo-GM1+, 29 to 45% Lyt-2+, and less than 10% L3T4+. These cells possessed potent lymphokine-activated killer (LAK)-like activity in that their ability to lyse cells of the NK-resistant P815 mastocytoma line was 10- to 100-fold higher on a per cell basis than splenocytes from the same animals. A correlation was found between the dose level, duration, and frequency of dosing with rIL-2 required to induce pleural effusions and hepatotoxicity and the dosage regimens required to produce the LAK-like cells in the pleural cavities and livers, respectively, of rIL-2-treated mice. Moreover, treatment of mice with anti-asialo-GM1 (anti-ASGM-1) antiserum in vivo at the same time they were receiving toxic doses of rIL-2 abolished or greatly reduced the severity of the vascular leak syndrome and hepatotoxicity and significantly prolonged the survival of the mice. Administration of anti-ASGM-1 to mice receiving toxic doses of rIL-2 resulted in a marked reduction in the LAK-like cytolytic activity of their pleural and liver lymphoid cells and a corresponding reduction in the percentage of ASGM-1+ cells in pulmonary and hepatic lymphoid infiltrates. Nevertheless, the overall extent of pulmonary and hepatic lymphoid infiltration, as well as other consequences of rIL-2 administration, including splenomegaly, hypoalbuminemia, eosinophilia, and thrombocytopenia, were not diminished as a result of anti-ASGM-1 treatment.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Role of asialo-GM1-positive lymphoid cells in mediating the toxic effects of recombinant IL-2 in mice. 325 67

A patient with unexplained erythrocyte glutathione-S-transferase (GST) deficiency has been detected among 513 unrelated persons with hemolytic anemia. An otherwise healthy adult male, the deficient individual had a mild hemolytic anemia with splenomegaly, indirect hyperbilirubinemia, and cholelithiasis. Because he was adopted and childless, the hereditary nature of the defect could not be established. The residual enzyme activity was only about 15% of mean normal. Depletion of glutathione (GSH) from the cells by 1-chloro-2,4-dinitrobenzene (CDNB), a substrate for GST, was somewhat decreased in the red cells from the patient, suggesting that a functional defect existed. The kinetic properties of the residual enzyme and the ratio of activity to antigenicity were normal. Modest decreases in leukocyte and platelet GST activities were documented. Although a cause-and-effect relationship between the GST deficiency and hemolysis may exist, this cannot be proven in the absence of affected family members.
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PMID:Erythrocyte glutathione S-transferase deficiency and hemolytic anemia. 339 Jun 13

Cellular glucose-metabolizing enzymes and acetylcholinesterase (AChE) have been utilized as biochemical markers of mononuclear cell (MNC) leukemia maintained by serial cell transplantation in F344 rats. We have evaluated the sensitivity and reproducibility of these tumor markers in comparison to other diagnostic criteria of leukemia. Weanling rats were injected with 2 X 10(7) leukemic spleen MNC and sampled at 6, 35, 63, and 83 days. At 6 days, the glycolytic enzyme activities from spleen that decreased were believed to be residual activity from injected leukemic MNC. Glycolytic enzyme activities in spleen MNC were normal at 35 days and no changes in blood MNC enzyme activity occurred at 6 days or 35 days. At 63 days, prior to clinical evidence of leukemia, glucose-metabolizing enzymes from spleen MNC changed, and there were decreases in AChE from both blood and spleen MNC that progressively decreased at 83 days, when there was depressed body weight, splenomegaly, elevated WBC, depressed RBC, hypoglycemia, hyperbilirubinemia, and elevated serum enzyme levels. Separation of leukemic MNC from blood and spleen enhances sensitivity of cellular enzyme responses and provides a reproducible model to study biochemical markers correlated with severity of leukemia.
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PMID:Biochemical markers for Fischer rat leukemia in a cell transplant model. 347 32


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