Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Reporting 5 cases of Wilson' disease occuring in children and expressed by a major liver involvement, the practical aspects of therapy are discussed. In 4 cases, follow-up exceeded 3 years. 1. D-Penicillillamine, a chelating agent, is administered for the purpose of inverting the cupric balance. Cupruria has, therefore, no absolute value and must be interpreted according to multiple factors. 2. The effects of D-penicillamine on the liver, as assessed by clinical, biological and histological data, appears encouraging. Laparoscopic examinations, so as to appreciate the evolution of the cirrhosis are still lacking. 3. The decrease in spleen size and signs of hypersplenism probably illustrate the reversibility of the portal hypertension. In Wilson's disease, portal hypertension requires special measures which exclude surgical portal diversion.
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PMID:[Treatment of Wilson's disease in children. Five case reports]. 99 39

The use of animal models in the experimental production of liver diseases similar to those of man is still in its infancy. There is a need to discover new models more closely related to counterpart syndromes in man in the fields of hepatorenal syndrome, neonatal jaundice, Wilson's disease, cholelithiasis, viral hepatitis, biliary atresia, and cirrhosis, to mention only a few. With the continued indiscriminate inbreeding of companion animals as well as the planned inbreeding of laboratory animals, there is little doubt that many more will soon be available. The current availability of mutant rats and sheep with bilirubin transport defects has allowed for a better understanding of how organic anions are transported by the liver. Many other currently available experimental animal models herein briefly reviewed have been only superficially studied. It is the intent of this chapter to provide for post-doctoral students an appreciation for the many animal model systems available for experimental hepatic research.
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PMID:Experimental liver diseases. 110 63

Biliary bile acid composition and pattern of bile acid conjugation with glycine or taurine were found to be within normal limits in six patients with documented Wilson's disease. Four patients had previous biopsy evidence of cirrhosis (three with active hepatitis), but most conventional liver function tests gave normal results at the time of the study. Serum levels of conjugates of cholic acid, measured by radioimmunoassay, were not increased. However, plasma disappearance if intravenously injected glycine conjugate of cholic acid was significantly delayed in all subjects, suggesting that this is a more sensitive test of hepatic excretory function and may be of value for assessing hepatic function in patients with this rare genetic disorder. No evidence of a primary disturbance in bile acid metabolism was found in these patients.
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PMID:Biliary bile acid composition in Wilson's disease. 112 89

Wilson's disease usually has its onset in childhood, adolescence, or early adulthood. The clinical picture of hepatic dysfunction without dysfunction of the central nervous system is more typical of the disease in the child or the adolescent than in the adult. We are presenting the case of a man whose age at onset of the disease was 55 years and who had the hepatic complications of Wilson's disease without clinical evidence of disease of the central nervous system. All patients with chronic hepatitis (chronic active liver disease) or cirrhosis of unknown etiology should be screened for the possibility of Wilson's disease. This screening should include slit-lamp biomicroscopy for Kayser-Fleischer rings, determination of serum ceruloplasmin concentration, and measurement of 24-hour urinary excretion of copper. If doubt exists concerning the diagnosis, either a radiocopper kinetic study, using 64Cu or 67Cu, or, if the patient's condition permits, a liver biopsy with measurement of hepatic copper concentration should be done. The rubeanic stain of hepatic tissue for copper is unreliable in making or excluding the diagnosis of Wilson's disease.
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PMID:Wilson's disease (hepatolenticular degeneration) of late adult onset: report of case. 115 37

Wilson's disease was diagnosed in a 16-year-old adolescent who presented with signs of hypersplenism due to cirrhosis, with marked hyperpigmentation of both lower legs and neurological disturbances. In view of progressive thrombocytopenia and leukocytopenia, splenectomy was performed during therapy with penicillamine later in the course, and the result was good. The patient's 12-year-old sister was found to have a hepatic form of Wilson's disease with typical biochemical findings. During the initial hospitalization a severe, spontaneous copper-induced hemolysis was noted. Another sister probably has a presymptomatic form of the disease. The parents are healthy but heterozygote carriers with regard to biochemical findings. The importance is stressed of hypersplenism, hyperpigmentation of the legs and especially of acute hemolysis in infancy as pointers in the diagnosis of Wilson's disease. Further diagnostic and therapeutic aspects are discussed.
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PMID:[Familial Wilson's disease: copper induced hemolysis, hypersplenism and hyperpigmentation as the main symptoms]. 121 85

Serum cholinesterase activity (ChE) was studied in 84 patients with chronic liver diseases (cirrhosis, chronic hepatitis, chronic cholecystocholangiohepatitis, hepatolenticular degeneration). Most pronounced alterations were found in cirrhosis. Significant difference is not established between cardiac and "noncardiac" cirrhosis but is well established between decompensated and compensated cirrhosis. As a rule ChE is normal in chronic hepatitis and cholecystocholangio-hepatitis. The values in agressive and persisting hepatitis do not differ significantly. Essential correlation of ChE with serum albumins is established. The diagnostic ChE value is confronted with that of the routine laboratory indices. Critical values are established (1500 ME, 1100 ME resp) that may be helpful in the differentiation of cirrhosis from chronic hepatitis, compensated from decompensated cirrhosis resp.
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PMID:[Place of serum cholinesterase in the diagnosis of chronic liver diseases]. 122 94

Four children had progressive degeneration of the cerebral cortex, with hepatic cirrhosis. They and four previously described ones, are representative of a distinct form of hepatocerebral degeneration. Onset of the neurological disorder is between ages 1 and 3 years, at times with mild developmental delay. Explosive onset of intractable convulsions, leaving the child in a stuporous and demented state, is characteristic. Generalized hypotonia or hemiparesis were observed in several affected children. Clinical evidences of hepatic disease, including ascites and jaundice, occurred late, if at all. The illness ended fatally within ten months of onset of convulsions. Pathological findings in the brain are neuronal loss and gliosis, in a pattern that is indistinguishable from that in degeneration of the cerebral gray matter in infancy (Alpers disease). The hepatic lesions consist of cirrhosis or of subacute hepatitis, with superimposed fatty infiltration of hepatocytes. The disorder is genetically determined, with recessive inheritance.
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PMID:Infantile diffuse cerebral degeneration with hepatic cirrhosis. 125 62

The serum non-caeruloplasmin copper concentrations were measured in normal subjects and patients with various types of liver disease by a sensitive direct method involving complexing the copper and measurement by atomic absorption spectrophotometry. In normal subjects the mean concentration (+/- S.D.) was 10.1 +/- 1.6 mug/100 ml, males having a slightly higher value (10.7 +/- 1.3 mug/100 ml) than females (9.2 +/- 1.8 mug/100 ml). In patients with various non-hepatic diseases concentrations were raised (15.8 +/- 8.9 mug/100 ml), as also in hepatitis (14.7 +/- 4.3 mug/100 ml), cholestasis (16.1 +/- 6.4 mug/100 ml) and cirrhosis (16.3 +/- 8.7 mug/100 ml). Heterozygotes for Wilson's disease and patients treated for Wilson's disease had concentrations (12.9 +/- 5.9 and 9.8 +/- 3.7 mug/100 ml, respectively) which did not differ significantly from normal whereas untreated patients had very significantly raised concentrations (22.9 +/- 4.5 mug/100 ml). Direct measurement of serum non-caeruloplasmin copper is more accurate than indirect measurement and may help in assessing the effect of treatment but it is concluded that measurement of this fraction of serum copper will not enable Wilson's disease to be differentiated from other forms of liver disease.
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PMID:Direct measurement of serum non-caeruloplasmin copper in liver disease. 127 46

To assess whether the hepatitis C virus plays an important role in Chinese patients with acute and chronic liver disease, antibodies to HCV (anti-HCV) were measured by enzyme immunoassay in 67 patients with type A and B acute viral hepatitis, 165 patients with non-A, non-B (NANB) hepatitis, 438 patients with chronic hepatitis, 200 patients with postnecrotic liver cirrhosis, 72 patients with alcoholic liver disease, 55 patients with non-alcoholic fatty liver, 24 patients with toxic and drug-induced hepatitis, and 20 patients with other chronic liver diseases. Anti-HCV was not detected in sera from patients with type A and B acute viral hepatitis, toxic and drug-induced hepatitis, primary biliary cirrhosis, Wilson's disease, or lupoid hepatitis. The anti-HCV prevalence was found to be highest in patients with NANB hepatitis (59% in sporadic and 73.2% in transfusion-associated), 16.4% in non-alcoholic fatty liver, 5.6% in alcoholic liver disease, 6.8% in chronic hepatitis, and 16% in postnecrotic liver cirrhosis. In patients with chronic hepatitis, the anti-HCV prevalence was significantly higher in HBsAg-negative (15/34, 44.1%) than in HBsAg-positive cases (15/404, 3.7%; P less than 0.0001). The results indicate that HCV is a major agent of NANB hepatitis and plays an important role in HBsAg-negative chronic liver disease in Taiwan.
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PMID:Prevalence of anti-HCV among Chinese patients with acute and chronic liver disease. 131 64

Over a period of 10 years, 65 cases of hepatic cirrhosis and cirrhogenic disease have been observed in five Pediatric Centers in mid Tunisia. The age of the patients ranged from 30 days to 14 years. The main etiology was biliary cirrhosis (24 cases) followed by post-hepatic cirrhosis (15 cases). Eight cases had a metabolic origin, which was Wilson's diseases in five cases. Three children had cirrhosis of a pre-hepatic origin. In 15 children, the liver biopsy showed the presence of cirrhosis but the etiology could not be found. Preventive measures are needed in order to reduce the frequency of cirrhosis among Tunisian children: 1) early recognition of biliary atresia, 2) vaccination against hepatitis B virus of at risk neonates and children, 3) Genetic counselling and search for familial cases when cirrhosis of metabolic origin is identified, particularly Wilson's disease.
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PMID:[Cirrhosis and cirrhogenic diseases in Tunisian children. Multicenter study of 65 cases]. 133 67


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