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)

Protein and lipid analyses were conducted on isolated erythrocyte and lymphocyte plasma membranes from 7-wk-old male C57BL copper-deficient and copper-supplemented mice to investigate mechanisms for the altered immunity that accompanies dietary copper deficiency. Beginning at parturition, dams were fed a diet low in copper (0.5 mg/kg) and the offspring were weaned to this diet. Half the dams and their respective offspring received supplemental copper (20 mg/L) in the drinking water (+Cu) and served as controls. Unsupplemented offspring (-Cu) had lower activity of cuproenzymes serum ceruloplasmin, spleen and thymus cytochrome-c oxidase and copper, zinc-superoxide dismutase. The -Cu mice exhibited anemia, splenomegaly and thymic atrophy. Based on the marker enzyme alkaline phosphodiesterase I (APDE-I), lymphocyte plasma membranes were enriched 7- to 10-fold for spleen and thymus, respectively, after discontinuous sucrose density centrifugation. The activity of APDE-I was higher in spleen and thymus samples from -Cu mice than from those of +Cu mice for both crude homogenates and purified plasma membranes. Proteins were fractionated by sodium dodecyl sulfate-polyacrylamide gel electrophoresis followed by silver staining. A yellow-appearing band, Mr 74,000, present in all splenic membrane samples from +Cu mice was not evident in the samples from -Cu mice. Fatty acid methyl esters (FAME) were quantified by gas chromatography. Compared to splenic membranes from +Cu mice, the samples from -Cu mice demonstrated significant changes in all FAME (lower 16:0, 18:0 and 20:3n-6 and higher 18:1n-9, 18:2n-6 and 20:4n-6), including a higher unsaturation index. FAME composition of erythrocyte ghosts from -Cu mice demonstrated similar changes.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Dietary copper deficiency alters protein and lipid composition of murine lymphocyte plasma membranes. 359 18

Primary hemochromatosis is characterized by a specific pattern of clinical manifestations. It includes liver disease with hepatomegaly, glucose intolerance, e.g. diabetes, hyperpigmentation oft the skin, impotence/ amenorrhea, arthropathy, cardiomyopathy and fatigue. Laboratory investigation reveals significantly elevated serum ferritin and transferrin saturation with iron. The diagnosis is confirmed by liver biopsy and quantitative determination of elevated liver iron content. Wilson's disease represents a copper storage disease. Prominent clinical features are hepatomegaly and splenomegaly. Neurological alterations and detection of Kayser-Fleischer corneal rings are typical. In the acute initial phase the often young patients present with Coombs-negative hemolysis. Psychiatric alterations, cardiomyopathy, arthropathy, nephropathy, as well as thrombocytopenia and leucopenia are other clinical features. Laboratory parameters of Wilson's disease include low serum ceruloplasmin and serum copper. There is an elevated urinary copper excretion and elevated serum free copper concentration. The diagnosis is confirmed by liver biopsy with quantitative determination of an elevated liver copper content.
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PMID:[Current diagnosis: hereditary metabolic diseases of the liver (primary hemochromatosis, Wilson disease)]. 898 78

Brazil has a young population and areas of endemic mansoni schistosomiasis where Wilson's disease might be easily misdiagnosed in patients erroneously classified as having either the hepatosplenic or the hepatointestinal form of the helminthiasis. Twenty five patients with the "hepatic form" of Wilson's disease (14 males and 11 females) were investigated in Belo Horizonte, MG; the mean age was 13.7 years (3 to 22). Nineteen had hepatomegaly (76%) and nine splenomegaly (36%). Twenty two (88%) had cirrhosis. The Kaiser-Fleisher ring was detected in fifteen (60%). Four (16%) had clear neurological abnormalities. Eleven (44%) had ascitis and/or jaundice. Ninety one point three per cent and 92% had low ceruloplasmin and copper serum levels respectively. Eighty four point two per cent showed an increased 24 hours urinary copper excretion; seven patients in whom hepatic copper was determined had increased values. Six out of nine had at least a ten fold increase in 24 hours urinary copper excretion following penicillamine use ("penicillamine test"). Three out of 19 patients (15.8%) had mansoni schistosoma ova in stools examination, a common prevalence in our population. Their biopsies showed inactive cirrhosis without schistosomiasis-associated alterations. At least fourteen patients (56%) could be misdiagnosed as having hepatointestinal or hepatosplenic schistosomisis when in fact they suffered from Wilson's disease with or without asymptomatic intestinal schistosomiasis, losing the chance of an early treatment. The follow-up time of 22 patients was 52 months (1 to 96); eight (36.3%) died, four from bleeding esphageal varices, three from terminal hepatic failure and one from fulminant liver failure. The majority of the patients, including those who died, had abandomned the use of penicillamine or had taken it irregularly, due mainly to its highly expensive cost. A 17 year old patient underwent a successful liver transplant in 1989.
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PMID:[Wilson's disease ("hepatic form") in a region endemic for schistosomiasis mansoni: clinical presentation of 25 patients]. 971 8

A nine year old mentally retarded girl with moderate splenomegaly and ascites presented with chronic cholelithiasis. The presence of Kayser-Fleischer rings and low serum ceruloplasmin level confirmed the diagnosis of Wilson's disease. Cirrhosis of liver and recurrent episodes of hemolysis--these two common complications of Wilson's disease make an ideal setting for gall stone formation. Only three such cases have been reported worldwide and ours is the first case report from India. We suggest that cholelithiasis and splenomegaly in a child without evidence of congenital hemolytic disease should be taken as a suspect of Wilson's disease.
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PMID:Cholelithiasis in a child--an unusual presentation of Wilson's disease. 1186 71

Acute hepatic failure has been reported in the presence of Epstein-Barr virus (EBV) infection. Autoimmune hemolytic anemia may also occur in the course of this infection. We report a rare case of fulminant hepatic failure and autoimmune hemolytic anemia associated with Epstein-Barr virus. A seven-year-old girl was admitted with the complaints of abdominal pain, vomiting and jaundice. She was irritable, confused and had mild hepatomegaly with marked splenomegaly. Serum aminotransferase levels were moderately elevated, while direct and indirect bilirubin levels were markedly elevated. Prothrombin time was prolonged. Hemoglobin was 3.9 g/dl. Anti-HAV IgM, HbsAg, anti-HBc IgM, anti-HCV and anti-CMV IgM were negative, while IgM VCA EBV, IgG VCA EBV and anti-CMV IgG were positive. Serum copper and ceruloplasmin levels were normal. The patient received supportive therapy for hepatic failure. Meanwhile, the cause of the deep anemia was investigated and autoimmune hemolytic anemia was ascertained by means of increased reticulocyte count and positive Coombs test. Corticosteroid therapy was administered. The prognosis was good. Although not reported before, the combination of acute hepatic failure and autoimmune hemolytic anemia may complicate the course of EBV infection. Physicians need to be aware of this association.
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PMID:Fulminant hepatic failure and autoimmune hemolytic anemia associated with Epstein-Barr virus infection. 1221 11

A case of Wilson's disease, a rare autosomal recessive disorder of copper metabolism is reported here. The patient was presented with the difficulty in speech and writing for 4 years and also on walking for 1 year. He also noticed difficulty to perform any work by hands for 6 months. He had splenomegaly and bilateral gynaecomastia. His speech was low volume slurred and monotonous, muscle tone was mildly increased, and gait was limping. Slit lamp examination of eye revealed bilateral Kayser-Fleischer ring with normal visual acuity. Investigations revealed low serum albumin(26 gram/L), increased alanine trans-aminase ( A.L.T=57 U/L). Ultrasonogram of hepatobiliary system revealed coarse hepatic tissue echotexture with splenomegaly. Liver scan showed slightly nonuniform radiotracer distribution in the liver, there was slight increased bony uptake. Serum caeruloplasmin level was 11.51 mg/dl. 24 hours urinary copper excretion was 150 microgram per day. Liver biopsy revealed cirrhotic change. Now he was advised for taking copper chelating agent (penicillamine) in a dose of 1 gram/day.
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PMID:A case report on Wilson's disease. 1289 51

A patient with end-stage liver cirrhosis and neurological disorder due to Wilson's disease (WD) underwent auxiliary partial orthotopic liver transplantation (APOLT) using a living donor. He first visited our institute complaining of hand tremor, which was diagnosed as WD. Despite medical therapy, hepatic impairment progressed toward portal hypertensive complications. He was considered a suitable candidate for living donor-related liver transplantation. However, because of the impossibility of mobilization of the lateral section due to severe splenomegaly at the time of the recipient operation, we performed an APOLT using a right lobe graft. After transplantation, he suffered hepatic vein stenosis and biliary stenosis, receiving interventional therapy. The remnant native liver volume decreased, and the volume of the graft increased serially after transplantation. At the time of reporting, the patient had a normal working life with normal serum ceruloplasmin level and without neurologic problems at 26 months posttransplantation. APOLT may be a therapeutic option for patients with WD.
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PMID:Auxiliary partial orthotopic living donor liver transplantation in a patient with Wilson's disease: a case report. 1910 Apr 98

Two sisters presented with lower limb deformity and difficulty in walking without support. Both had short stature; however, neurodevelopment and secondary sexual characters were normal. Abdominal examination revealed splenomegaly and ophthalmic examination showed presence of Kayser-Fleischer (K-F) rings. Diagnosis of Wilson's disease was confirmed with low serum copper and ceruloplasmin levels. Further investigations revealed urinary acidification defect with hypercalciuria pointing towards distal renal tubular acidosis. Both patients were started on copper chelation therapy and showed gradual radiographic improvement in osteopaenia.
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PMID:Renal tubular acidosis due to Wilson's disease presenting as metabolic bone disease. 2268 76

We present an adolescent patient with WD accompanied with secondary amenorrhea, and thrombocytopenia. NK, a 14 year-old girl, had amenorrhea for 5 months despite having had regular menses for 2 years. An abdominal ultrasound scan revealed ascitis and some ovarian cysts. On physical examination: slight jaundice, edema of lower extremities, skin purpuric rash, enlarged abdomen, dry skin. She had no hepatomegaly and no splenomegaly. Breast and pubic hair development was concomitant with Tanner stage 4. There was performed laboratory and instrumental investigations. The patient was diagnosed as WD owing to the low level of ceruloplasmin, with increased level of copper in 24-hour urine excretion and in dry liver tissue. The needle biopsy of liver showed severe hepatocellular necrosis, inflammatory changes and fibrosis. The platelet count was found to be low with lack of increased number of megakaryocytes in the bone marrow aspiration suggesting the thrombocytopenia was not exclusively owing to hypersplenism. The absence of antithrombocyte and other autoimmune and viral antibodies excluded respectively the diagnosis of autoimmune thrombocytopenia, other autoimmune diseases and viral infections. Thus, we support the recommendation that adolescents with amenorrhea or children with thrombocytopenia without any obvious cause should be evaluated for WD, because the early detection and treatment of WD is capable of reversing described changes and restoring a normal liver function.
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PMID:Wilson disease with thrombocytopenia (case report). 2561 3

Immunoglobulin A nephropathy is the most common primary glomerulonephritis worldwide, and it can be associated with liver disease. However, cases of Immunoglobulin A nephropathy secondary to Wilson's disease are very rare. A 20-year-old Japanese man presented with microscopic hematuria, proteinuria, and renal dysfunction. A renal biopsy showed mesangial cell proliferation, immunoglobulin A deposition, and electron-dense deposit in the mesangial areas, all of which are consistent with Immunoglobulin A nephropathy. Computed tomography of the abdomen showed liver atrophy and splenomegaly, and the diagnosis of Wilson's disease was confirmed with decreased serum ceruloplasmin levels, increased urinary copper excretion, Kayser-Fleischer rings and copper deposition in the liver biopsy. The patient was treated successfully with trientine hydrochloride and zinc acetate and showed improvement in renal manifestations. Wilson's disease is a rare cause of secondary Immunoglobulin A nephropathy. We recommend that Wilson's disease should be considered the cause of secondary Immunoglobulin A nephropathy in juvenile patients with hematuria, proteinuria, and splenomegaly and suggest measuring the serum ceruloplasmin concentrations, urinary copper excretion, and evaluating Kayser-Fleischer rings in these patients.
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PMID:Immunoglobulin A nephropathy secondary to Wilson's disease: a case report and literature review. 3025 38


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