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 36-year-old woman was admitted to our hospital because of general fatigue. The physical and laboratory findings on admission revealed splenomegaly, pancytopenia, hypocoagulopathy, liver hypofunction with a hepaplastin test of 55% and ICG Rmax of 0.6 mg/kg/min. Diagnostic imaging showed a hypoechoic mass 1.5 in diameter a low density area on the CT scan and a faint tumor stain on the AAG in the posterior inferior area of the liver. On a diagnosis of hepatocellular carcinoma with liver cirrhosis and hypersplenism, partial hepatectomy and splenectomy were performed. The resected hepatic specimen revealed a small liver cancer of 1.9 x 1.5 x 1.3 cm with liver cirrhosis. The specimen consisted of a firm rubbery mass. Macroscopically, the tumor appeared oval and was lobulated with a thin capsule. A fibrous scar was observed in the central area. Microscopically, malignant hepatocytes showed various shapes, ranging from polygonal to spindle form, with eosinophilic granular cytoplasm and were surrounded by abundant fibrous stroma. Orcein stain, revealed that these malignant hepatocytes contained many black granules of copper-binding protein. Immunoperoxidase staining for alpha 1-antitrypsin was also positive in the malignant hepatocytes. However, within this lamellar fibrous regions, there were many cords of tumor cells in which nucleoli were absent and abortive biliary differentiation was suggested. Consequently this tumor was diagnosed as an atypical fibrolamellar hepatocellular carcinoma. We think that this case is the 3rd case reported in Japan and the 2nd case in a Japanese person.
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PMID:Fibrolamellar carcinoma of the liver--a case report. 165 47

Some clinical clues should alert paediatricians to the possibility of metabolic liver diseases. They can be classified into three categories: (i) Manifestations due to hepatocellular necrosis, acute or subacute, which can reveal galactosaemia, hereditary fructose intolerance, tyrosinaemia type I, Wilson disease and alpha 1-antitrypsin deficiency. Symptoms and signs suggestive of Reye syndrome should lead to a study of fatty acid oxidation and urea cycle enzymes. All these manifestations may necessitate a rapid diagnosis and treatment when liver dysfunction is severe. (ii) Cholestatic jaundice can reveal alpha 1-antitrypsin deficiency, Byler's disease, cystic fibrosis, Niemann-Pick disease and some disorders of peroxisome biogenesis. (iii) Hepatomegaly can reveal disorders with liver damage but also storage diseases such as glycogen storage diseases, cholesteryl ester storage disease and, when associated with splenomegaly, lysosomal storage diseases. Appropriate investigations for recognizing all these entities are proposed.
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PMID:Clinical presentation of metabolic liver disease. 174 17

The diagnostic findings of malignant histiocytosis (MH) were analysed in 12 consecutive patients in a single institution. Most patients presented with systemic symptoms and lymphadenopathy (92%), splenomegaly (100%) and hepatomegaly (67%). Neurologic symptoms were present in three patients, while involvement of other organs was present in five patients. The incidence of severe thrombocytopenia was 92% of anaemia 92% and of leucocytopenia 67%. Serum angiotensin converting enzyme, alpha 1-antitrypsin and lysozyme were independently increased in 6/9, 3/10 and 1/9 patients respectively. High serum levels of tumour necrosis factor (TNF) were present in 3/10 patients, while serum levels of interleukin-1 were normal in 10/10 patients. Histologic evidence of MH was obtained in all patients by repeated biopsies of involved tissues. Four patients died prior to treatment. Seven patients were treated with combination chemotherapy, consisting of CHOP (cyclophosphamide, doxorubicin, vincristine, prednisone) or MOPP (chloromethine, vincristine, procarbazine, prednisone), in some cases followed by non-cross-resistant second line chemotherapy, if no complete response was attained. The response rate of treated patients was 57%, and progression was observed in two patients. The median duration of response was 38 months. Three patients are alive without evidence of disease and off therapy (30+, 83+, 85+ months). Although MH is a potentially lethal disease, combination chemotherapy may offer a chance for cure in some patients.
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PMID:Clinicopathological diagnosis and treatment of malignant histiocytosis. 220 2

We observed 45 children with a history of neonatal cholestasis associated with alpha 1-antitrypsin deficiency (phenotype PiZ). Twenty-five developed cirrhosis (group 1), and in the other 20, without cirrhosis (group 2), the outcome was considered to be good. Certain clinical, biochemical, and histologic features of each group were studied to permit early assessment of hepatic evolution. Liver biopsy showed that fibrosis was more frequent and severe in group 1 during neonatal cholestasis. Later this group was characterized by possible persistence of jaundice, early development of splenomegaly, and persistence of hard hepatomegaly and liver function abnormalities. Of the latter, sustained elevation of SGPT and direct bilirubin values were the most striking findings. The characteristics of group 2 were harder to identify: clinical recovery and return to normal biochemical values were always signs of a good outcome, as confirmed by the histologic findings; on the other hand, although some of the children in this group without cirrhosis had only minimal abnormalities, histologic evidence of significant portal fibrosis in some patients made long-term prognosis less certain.
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PMID:Early assessment of evolution of liver disease associated with alpha 1-antitrypsin deficiency in childhood. 660 2

Blood coagulation and fibrinolysis before and after splenectomy was studied in 74 cases of liver cirrhosis. A hypocoagulable state was found before splenectomy, but the platelet count, and the levels of fibrinogen, plasminogen, alpha 2-macroglobulin and antithrombin III increased significantly after splenectomy (p less than 0.05 to p less than 0.001). A marked improvement was observed on the values of r (reaction time), k (clot formation time) and ma (maximal amplitude) of thrombelastograms (p less than 0.05 to p less than 0.001). The prothrombin time was reduced after the surgery, but not significantly (p less than 0.1, greater than 0.05). The levels of alpha 1-antitrypsin remained almost unchanged, while serum fibrinogen-fibrin degradation products (FDP) showed a slight decrease postoperatively. The immunohistologic study of the spleen excised from 7 cases with liver cirrhosis, with the use of the direct immunofluorescence technique, demonstrated the deposits of fibrin in the splenic cords in all cases. It was not recognized in the spleens of 4 cases without cirrhosis used as the control. A further study of the spleen weight and plasma fibrinogen level showed that a significant inverse correlation exists between these two parameters (p less than 0.01). These findings suggest that localized intravascular coagulation (LIC) occurs in the enlarged spleen associated with liver cirrhosis.
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PMID:Effects of splenectomy on blood coagulation and fibrinolysis in patients with liver cirrhosis: possible role of the spleen in haemostasis. 698 11