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)

A 5 1/2-year-old child with hepatocarcinoma complicating hereditary tyrosinemia is presented. A review of the literature and an attempted follow-up of previously reported patients with the chronic form of hereditary tyrosinemia have disclosed 16 cases of hepatocarcinoma occurring in 43 patients surviving beyond 2 years of age (37%). This incidence is considerably higher than that generally given for the occurrence of hepatoma in adults with macronodular cirrhosis. Females and males are equally at risk. Additional factors beyond the development of cirrhosis are likely operative in the induction of hepatocarcinoma in patients with this metabolic disorder; those surviving beyond infancy are at considerable risk for the development of fatal hepatic neoplasms.
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PMID:The occurrence of hepatoma in the chronic form of hereditary tyrosinemia. 17 27

During a preliminary study comparing 5 normal subjects and 5 alcoholics (25 experiments) changes in evoked potentials were found in these patients. There was mainly a reduction in these potentials during the first 100 milleseconds following stimulation. Such a reduction generally means a disorder of the arrival of the influx at the level of the cortex and may be found mainly in peripheral nerve involvement. A complementary study of the H reflex (34 experiments) showed that this reflex was affected in 60% of chronic alcoholics whether or not they had liver cirrhosis. The theory according to which the EEG abnormalities observed may be linked to a metabolic disorder of the amino-acids was not confirmed. The changes of the first 100 milleseconds of the evoked potential associated with the change in Hoffman's reflex are in favour of early peripheral involvement even in alcoholics who do not appear to have any peripheral neuritis. These signs are different from those which are observed in marijuana or psylocybine poisoning where the EEG signs are due to central involvement.
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PMID:[Electrophysiologic abnormalities in chronic alcoholism, disclosed by the methods of evoked potentials and Hoffman's reflex. Study of a possible metabolic pathogenesis]. 19 16

In connection with 6 cases of Wilson's disease, the authors recall the main features of this hereditary metabolic disorder at late onset (usually the second decade), treatable with a chelating agent, when diagnosed at an early stage. Wilson's disease is first of all a liver disease and the authors emphasize the fact that cirrhosis is usually present when neurologic symptoms, revealing the disease in 5 cases, appear, even if there is no clinical or biological evidence for liver disease. In one instance hemolytic anemia and chronic active hepatitis were observed at clinical onset. Copper metabolism usually gives the key for diagnosis but its interpretation may be difficult, a normal serum ceruleoplasmin level being found in two patients and evaluated at 6% in the literature. This fact brings up the puzzling question of the pathogesis of the disease. Wilson's disease is not a simple ceruleoplasmin synthesis defect, but a lysosomal disease responsible for the lack of copper biliary excretion. This is pointed out by histochemical studies using a special rubeanic acid preparation (revealing copper deposit on the biliary side of the hepatic cell), and by electron microscopy showing lysosomal dystrophy.
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PMID:[Wilson's disease. A clinical and pathological study on 6 cases (author's transl)]. 22 95

Sodium and water retention is constant in decompensated cirrhosis with ascites and edema. Sodium retention is due to several factors. Renal hemodynamic disturbances appear first: decrease in glomerular filtration and renal plasmatic perfusion, redistribution of renal perfusion to the juxtamedullar area where the longer nephrons reabsorb more sodium. Metabolic disorders of estrogens, natriuretic hormonal factor, prostaglandins and the kallikrein-kinin system contribute to greater sodium retention. Water retention is secondary to greater sodium reabsorption and to hyperactivity of the antidiuretic hormone. Sodium and water retention, associated with portal hypertension, with reduced oncotic pressure and with dynamic lymphatic insufficiency, is responsible for the production of ascites. The latter results in a decrease in the effective plasmatic volume, with non-suppression of the renin-angiotensin system, increased aldosterone production and additional sodium retention.
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PMID:[The physiopathology of ascites]. 46 62

A patient with no underlying hematologic or iron metabolic disorder developed iron induced hepatic cirrhosis as a consequence of long term medicinal iron ingestion. Marked improvement in liver histology followed removal of 28 grams of iron by phlebotomy. Radioautographic studies in rats showed a periportal hepatocyte concentration of radioiron absorbed from the intestine while plasma transferrin was saturated. Based on these and other observations an hypothesis is proposed to explain liver damage in disorders of iron overload.
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PMID:Medicinal iron-induced hepatic cirrhosis: reversal by phlebotomy: studies on pathogenesis. 61 15

The authors present the results of a study of cerebral blood flow and energy metabolism carried out in 19 subjects, 12 of whom had hepatic cirrhosis and hepatic encephalopathy (HE). The spontaneous changes and those noted after intravenous administration of ammonium chloride and of L. Dopa, shows that the signs of hepatic encephalopathy are not directly related to the reduction in energy metabolism and that this metabolic disorder does not depend on a blocking of the dopaminergic synopses. The results of this study emphasize the complexity of HE and raise up the hypothesis of the creation of intra-cerebral arterio-venous shunts in cirrhotic patients.
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PMID:[Hepatic encephalopathies; hemodynamic and metabolic study of the influence of ammonia and levodopa]. 91 61

A 56 year-old-male liver cirrhosis patient was admitted because of hepatic encephalopathy with hyperammonemia. We measured cerebral blood flow (CBF), cerebral oxygen extraction fraction (OEF) and cerebral metabolic rate for oxygen (CMRO2) by using PET before and after treatment of hyperammonemia. At the time of the first PET, serum ammonia was 152 micrograms/dl and on the second PET it was 88 micrograms/dl. The electroencephalogram and number connection test also improved on the second PET. CBF and CMRO2 were decreased by 25-42% in comparison to normal control and OEF increased 1-24% at first examination. Similar abnormal reduction of both CBF and CMRO2 and increase of OEF were seen at second examination. Reduced CBF and CMRO2 regardless of serum ammonia level suggests that heptic encephalopathy may be, at least in part, associated with pathological changes in brain tissue induced by hepatic metabolic disorder.
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PMID:[Positron emission tomography (PET) before and after treatment of hyperammonemia in a patient with decompensated liver cirrhosis]. 174 67

Grave hyperkalemic is a serious metabolic disorder. Its treatment fell into the fields of urgent medicine because of the risk of malignant cardiac arrhythmias that can be fatal for the patient. The article deals with the treatment of a 49-year-old female patient with decompensated liver cirrhosis and diabetes mellitus in whom grave hyperkalemia (9 mmol/1) with typical electrocardiographic changes was provoked by potassium saving diuretics combined with furosemide and the additional potassium substituted drugs, as well as development of diabetic ketoacidosis. Thanks to intensive medicinal treatment and constant follow-up of the patient rapid disappearance of hyperkalemia and ketoacidosis was observed. The success of medicinal therapy can be expected in cases of extreme hyperkalemia and relative hypokaliaemia. Intracellular hyperkaliaemia must be treated, without delay, with dialysis. Potassium saving diuretics and furosemide do not require additional potassium drugs, especially in risk patients in whom hyperkalemia may develop because of other existing diseases.
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PMID:[Treatment of extreme hyperkalemia caused by diabetic ketoacidosis, potassium-sparing diuretics and potassium substitutes]. 212 65

Four cases of neonatal haemochromatosis presenting as fulminant hepatic failure in the newborn were diagnosed by autopsy. In all four cases the diagnosis was made by histochemical demonstration of excessive iron deposition in hepatocytes and extrahepatic parenchymal cells, particularly pancreatic acinar epithelium, thyroid follicular epithelium and distal renal tubules. No haemosiderin was detectable in the extrahepatic mononuclear-phagocytic cells of the spleen, lymph nodes and bone marrow. The liver was the most severely affected organ. The hepatic haemosiderosis was associated with massive hepatocellular necrosis of prenatal onset in three patients, one of whom showed formation of regenerative nodules, establishing true congenital cirrhosis. Other inconstant findings included giant cell transformation, diffuse sinusoidal fibrosis with segregation of small groups of hepatocytes and cholestasis with pseudoacinar change of liver cell plates. The fetal liver disease had its onset in the late second trimester of pregnancy and was reflected clinically by severe panhypoproteinaemia with non-immune hydrops; hyperbilirubinaemia and haemorrhagic diatheses were apparent in the newborn. Neonatal haemochromatosis is a metabolic disorder, probably of autosomal recessive inheritance. The site and nature of the basic defect remain uncertain. Pathologists should be aware of this condition and its potential recurrence in subsequent pregnancies.
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PMID:Neonatal haemochromatosis. 225 73

Hepatolenticular degeneration (Wilson's disease) is a hereditary disease in which metabolic disorder of copper leads to its accumulation in the liver, brain, cornea and kidneys with consequent pathologic changes in those organs. Hereditary mechanism of the disease is autosomal recessive with prevalence of 30-100 per 1,000,000 inhabitants. Etiology of this disease is not yet explained. There are two hypotheses. The first one is that it is the disorder of ceruloplasmine metabolism caused by insufficient synthesis of normal ceruloplasmine, or synthesis of functionally abnormal ceruloplasmine. The second one is: the block of copper biliar excretion which is the consequence of the liver lysosomes functional defect. Pathogenetic mechanism of disease is firstly long-term accumulation of copper in the liver, and later, when the liver depo is full, its releasing in circulation and accumulation in the brain, cornea, kidneys and bones, which causes adequate pathologic changes. Toxic activity of copper is the consequence of its activity on enzymes, particularly on those with -SH group. There are two basic clinical forms of the disease: liver disease or neurologic disease. Before puberty the liver damage is more frequent, while in adolescents and young adults neurologic form of the disease is usual. The liver disease is nonspecific and characterized by symptoms of cirrhosis and chronic aggressive hepatitis. The only specificity is hemolytic anemia which, in combination with previous symptoms, is important for diagnosis of the disease. Neurologic symptoms are the most frequent consequence of pathologic changes in the basal ganglia. In our patients the most frequent symptoms were tremor (63%); dysarthria, choreoathetosis and rigor (38%); ataxia and mental disorders (31%); dysphagia and dystonia (12%), diplopia, hypersalivation, nystagmus and Babinski's sign (6%). Among pathologic changes in other tissues and organs the most important is the finding of Kayser-Fleischer ring in the cornea as a result of copper accumulation. Its importance for precise diagnosis is great. The diagnosis of the disease is based on anamnesis, clinical examination, specific and nonspecific laboratory tests. The therapy of choice is penicillamine. If we use it early, the result will be good remission in the majority of patients. Late diagnosis or delay in treatment cause death which is the result of bleeding from esophageal varices or basal ganglia disease. Immunologic damages caused by penicillamine demand interruption of therapy and substitution by three-ethyl-tetra-amine (TETA). We also use zinc salts and tetratiomolibdate in therapy of this disease. Pathogenesis, clinical picture and therapy of the disease are based on our own results.
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PMID:[Hepatolenticular degeneration]. 226 49


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