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)

Histiocytosis X describes a disease characterized by histiocytic infiltration of the reticuloendothelial system, skin, bones, and pituitary gland. The disseminated form frequently occurs in infants and children. Chemotherapy has significantly improved the prognosis in this disorder. Sixty-three per cent of survivors, however, have some residual disability related to fibrosis of tissues previously infiltrated by histiocytes. In instances of liver involvement, healing by fibrosis may result in cirrhosis with portal hypertension and bleeding esophageal varices. Clinical findings include hepatosplenomegaly, jaundice, ascites, hypoalbuminemia, prolonged prothrombin time, and Bromsulphalein retention. Histologic examination of the liver shows a characteristic dense "macronodular" periportal cirrhotic pattern. Three children with portal hypertension and bleeding varices due to healed histiocytosis X were sucessfully managed by portosystemic shunt procedures. Portacaval, mesocaval, and central splenorenal shunts were equally effective in relieving poral hypertension. These children had neither recurrence of bleeding nor evidence of encephalopathy. Two children remain well whereas in one patient a primary hepatoma developed fourteen years posthung and he died of pulmonary metastases. Portosystemic shunt procedures effectively relieve the threat of potentially fatal variceal hemorrhage and improve the opportunity for long-term survival in children with cirrhosis and portal hypertension due to healed histiocytosis X.
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PMID:Portal hypertension in infants and children with histiocytosis X. 108 50

A variant strain of Rauscher leukemia virus (RLV-A) obtained from a transplantable murine monomyelocytic leukemia causes a disease characterized by frank anemia, wasting, hepatosplenomegaly and erythroblastosis. The involvement of platelets in this disease are reported here. The RLV-A induced a severe thrombocytopenia (25 percent of control level) at the terminal stage of disease. This thrombocytopenia was not associated with disseminated intravascular coagulopathy since the prothrombin times were always within normal limits. The partial thromboplastin time was elevated in the terminal stages of disease and was found to be associated with factor deficiencies, possibly owing to the presence of anti-factor antibodies, in the intrinsic coagulation pathway, especially factor VIII. Further, splenectomy did not abolish the thrombocytopenia, since splenectomized, virally infected animals also developed severe thrombocytopenia (29 percent of control levels). The ensuing splenomegaly during progression of disease was not the cause of the thrombocytopenia. A physiological response to the severe thrombocytopenia was the production of larger size platelets. At terminal stages of the disease, platelet volume increased to 4.2 mu 3 (normal is 3.0 mu 3). An increase in platelet volume was also observed in splenectomized, virally infected animals. Electron microscopy indicated that these circulating platelets contained c-type viral particles. Viral infection was associated with decreased life span of circulating platelets, as measured by 75Se-methionine at mid and terminal stages of the disease. Our results suggest that direct viral infection of platelets and/or megakaryocytes with subsequent cell lysis is a possible cause of the observed thrombocytopenia observed in RLVA-induced disease and may also occur in other retrovirally-induced diseases.
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PMID:Thrombocytopenia in a retrovirally-induced murine erythroleukemia. 145 28

A 27-year-old female patient with alcoholic cirrhosis was reported. She was admitted to the hospital because of jaundice and ascites after heavy drinking. She had a history of drinking Japanese Sake in quantities of more than 5 go/day (900 ml/day) for 7 years. On admission, she was icteric, and had both hepatosplenomegaly and ascites. Laboratory data showed an elevation of serum transaminase and bilirubin, and a decrease in the albumin and prothrombin values. A biopsy specimen of the liver showed pericellular fibrosis, fatty change, Mallory bodies and regenerative nodules, and revealed findings compatible with alcoholic cirrhosis. A 99mTc-N-pyridoxyl-5-methyltryptophan scintigram showed hepatomegaly. On the 99mTc-phytate scintigram, the uptake of radioisotope to the liver was markedly decreased with the increased uptake to the spleen and bone marrow. Even 6 months after the onset, poor visualization of the hepatic image on 99mTc-phytate scintigram continued. This is the first report of alcoholic cirrhosis demonstrating a long-term poor visualization of the hepatic image on 99mTc-phytate scintigraphy.
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PMID:[A case of alcoholic cirrhosis demonstrating long-term poor-visualization of the hepatic image on 99mTc-phytate scintigraphy]. 237 9

A patient with two attacks of glottis angioedema in a 15-day period without any apparent stimulus was studied. The complement profile of the patient revealed depletion of C4, C2, C1 inhibitor (C1INH) and C1q, with normal values of C3. Patient's offspring had a normal complement profile. Cytofluorographic analysis of the peripheral blood cells showed a marked increase of B cells. In the clotting study, a circulating lupus-like anticoagulant activity (LLA) was detected with a noticeable decrease of prothrombin time. Hepatosplenomegaly was confirmed by abdominal echography and CAT. From the liver biopsy it was concluded to be a lymphoproliferative process compatible with germinal center lymphoma. It is suggested that the neoplasm is probably the origin of the LLA and the cause of C1 activation, producing the biochemical defect of C1INH and the clinical symptoms of angioedema.
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PMID:Acquired C1-inhibitor deficiency associated with a lupus-like anticoagulant activity. 314 11

We determined the clinical and biological correlates of coagulopathy in a large series of patients with untreated childhood acute leukemia. Twenty-five of 805 children with acute lymphoblastic leukemia (ALL) (3.1%) and 27 of 195 with acute myeloid leukemia (AML) (13.8%) met any two of three requirements for a coagulation disorder: fibrinogen level less than 150 mg/dL; fibrin degradation products greater than 10 micrograms/mL; and prolongation of prothrombin time (PT) greater than 12 seconds, activated partial thromboplastin time (PTT) greater than 45 seconds, or thrombin time (TT) greater than 18 seconds. Patients with ALL complicated by abnormal coagulation were more likely to be boys and to have a T-cell immunophenotype, a high leukocyte count, a mediastinal mass, leukemic involvement of the CNS, hepatosplenomegaly, and L2 blast cell morphology. These features were highly interrelated, with only T-cell markers and CNS involvement achieving independent significance in a multivariate logistic regression model. Hepatomegaly, blast cell morphological subtype (French-American-British [FAB] M3, M4, and M5) and age less than 2 years were each associated with coagulopathy in patients with AML, although age failed to retain importance after logistic regression analysis. The presence of coagulopathy at diagnosis of ALL did not influence the rate of remission induction (P = .55). By contrast, only 14 of 27 children with coagulopathy at diagnosis of AML achieved a complete remission (CR), compared with 129 of 168 other patients who lacked this complication (P = .003). After multivariate analysis, coagulopathy remained independently associated with failure to attain remission in AML (P = .02). Fatal hemorrhagic complications arising in the CNS or lungs accounted for nine of the 13 induction failures in this group. The presence or absence of coagulopathy had no discernible influence on treatment outcome among patients with either ALL or AML who attained a CR. Laboratory evidence of a coagulation defect may be useful in identifying patients with AML who have a greater risk of induction failure and, hence, require close surveillance and intensive replacement therapy to prevent fatal hemorrhagic complications.
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PMID:The clinical and biological correlates of coagulopathy in children with acute leukemia. 352 66

There have been a few reports of infants with severe neonatal cholestasis related to a defect in primary bile acid synthesis. To assess the importance of such deficiency among children with progressive intrahepatic cholestasis (Byler disease), screening for inborn errors in bile acid synthesis was performed by fast atom bombardment ionization-mass spectrometry of urine samples from 30 affected children. Bile acid analysis revealed a specific fast atom bombardment ionization-mass spectrometry profile for 3 beta-hydroxy-C27 steroid dehydrogenase/isomerase deficiency in five children who had jaundice, hepatosplenomegaly, and fatty stools beginning at ages ranging from 4 to 46 months. None of them had pruritus. Liver function tests showed persistently normal serum gamma-glutamyltransferase activity, low serum cholesterol and vitamin E levels, normal serum bile acid concentrations despite raised serum bilirubin levels, and decreased prothrombin time and clotting factor V. In four of the cases a similar disease was observed in siblings. Liver function returned to normal after oral ursodeoxycholic acid therapy. We conclude that 3 beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency should be considered when idiopathic cholestatic liver disease with clinical features akin to Byler disease is characterized by the association of normal serum gamma-glutamyltransferase activity, normal serum bile acid concentration, absence of pruritus, and a return to normal liver function during ursodeoxycholic acid therapy. Early identification of these children is essential because they benefit from bile acid therapy and might thus avoid the need for liver transplantation.
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PMID:A new cause of progressive intrahepatic cholestasis: 3 beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency. 791 5

Some platelet alpha-granule contents were assessed in parallel with other markers of hemostatic imbalance in 50 patients with hepatosplenic schistosomiasis (15 patients with compensated hepatosplenomegaly, 15 patients with advanced hepatic fibrosis and ascites and 20 patients during an acute attack of hematemesis from ruptured esophageal varices). Platelet factor 4 (PF4), beta-thromboglobulin (beta-TG), fibronectin (FN), prothrombin fragment 1 + 2, thrombin-antithrombin (TAT) complexes, fibrin degradation products (FbDP) and D-dimer were assessed in schistosomal patients compared to controls (15 healthy subjects). A significant increase in both thrombin (high TAT and prothrombin fragment 1 + 2 levels) and plasmin (high FbDP and D-dimer levels) generation was detected in decompensated patients establishing the presence of a steady state of low-grade disseminated intravascular coagulation, with and without overt bleeding, in these patients. A decrease in plasma FN concentration was found in diseased groups compared to controls. The reduction in plasma levels of FN paralleled the defective liver function and matched the relative decrease in tissue FN in liver specimens of decompensated patients suggesting that FN levels can be used to evaluate the pathological staging of the disease. A significant increase in beta-TG and PF4 levels was noted in decompensated patients with ascites and/or acute hematemesis compared both to controls and compensated patients reflecting platelet alpha-granule release and consequently increased in vivo platelet activation which may initiate and/or perpetuate the pathophysiological mechanisms of the hemostatic imbalance underlying the hemorrhagic diathesis in hepatosplenic schistosomiasis.
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PMID:Fibronectin, platelet factor 4 and beta-thromboglobulin in endemic hepatosplenic schistosomiasis: relation to acute hematemesis. 909 85

Bone marrow necrosis (BMN) is a relatively rare entity and has been associated with a poor prognosis. It is most commonly found in patients with neoplastic disorders, severe infections and sickle cell anemia. An unusual case of antiphospholipid syndrome (APS) with extensive bone marrow necrosis is described in a 27 year old woman. The patient presented with severe pancytopenia, some cognitive impairment resulting from a previous cerebrovascular accident, fever, hypertension, dyspnoea, tachycardia, hepatosplenomegaly, and vaginal bleeding. Her laboratory findings included a strongly positive Coombs' test (anti-IgG and anti-C3d), a prothrombin time of 23 seconds and an activated partial thromboplastin time of 45 seconds. Anticardiolipin antibody tests were positive. Antinuclear and anti-DNA antibodies were negative but the anti-SM test was positive. A bone marrow biopsy specimen was reported as showing extensive necrosis. The patient was treated with steroids, transfusion, and plasma exchange with some clinical improvement but her pancytopenia did not respond and necessitated frequent transfusions. This case lends further support to the association between APS and BMN.
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PMID:Bone marrow necrosis in antiphospholipid syndrome. 915 83

A 47 year old patient was admitted because of 20 kg weight loss and microcytic anaemia. There wasn't any important disease in his medical history. During examinations it has been found microcytic anaemia, hypoproteinaemia, low serum potassium, elevated prothrombin INR value, malabsorption and mild hepatosplenomegaly. After precluding the possibility of malignant disorders and any other chronic diseases, examinations have cleared Whipple-disease.
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PMID:[An unusual case of morbid weight loss]. 957 3

Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disease caused by deficient glycogen branching enzyme (GBE). We report a 15-month-old female patient with GSD-IV who exhibited an abdominal distension and failure to thrive for 9 months. The patient showed hepatosplenomegaly with massive ascites. The laboratory findings showed abnormal liver functions including prolongation of prothrombin time and partial thromboplastin time. The light microscopic and electron microscopic findings of the liver biopsy specimen were consistent with GSD-IV. Measurement of glycogen quantity in the red blood cells showed increased storage of glycogen in the patient and interestingly, in her mother. The GBE activity of the patient's red blood cells was undetectable. The patient's ascites, general condition, and laboratory findings have been improved with supportive treatment with diuretics and a low dose of prednisolone.
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PMID:Glycogen storage disease type IV: a case report. 961 Jun 25


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