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)

We studied the clinical histories of four white American siblings who died at 41/2 to six years of age of an unknown form of cirrhosis, in an effort to identify the etiologic factors in this familial syndrome. The family history disclosed no Indian heritage or parental consanguinity. The children were born and raised in New Jersey. Each had been well until progressive lethargy, abdominal swelling, jaundice, and fever developed four to seven months before death. The liver histopathology in each case closely resembled that of Indian childhood cirrhosis and included severe panlobular liver-cell swelling with Mallory body formation, prominent pericellular fibrosis, "micro-micronodular" cirrhosis, and marked deposits of copper and copper-binding protein. Hepatic copper levels were as high as 2083 microgram per gram of tissue (normal, less than 50 microgram). A number of features distinguish this syndrome from Wilson's disease and familial cholestatic disorders of childhood. A genetically determined disturbance in copper metabolism appears to be the most likely cause.
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PMID:Hepatic copper overload and features of Indian childhood cirrhosis in an American sibship. 708 87

Haemochromatosis is one of the most common inborn errors of metabolism. In prospective epidemiological studies the frequency of haemochromatosis is 0.0037 (76/20333 subjects) for homozygotes which corresponds to a gene frequency of 0.061 and a frequency of heterozygotes of 0.115. Abnormality in liver function tests, weakness and lethargy, skin hyperpigmentation, diabetes mellitus, arthralgia, impotence and ECG abnormalities are the most frequent findings and symptoms at diagnosis. In recent years about 50% of patients were detected without having liver cirrhosis and 20% of patients did not have any symptoms and pathology except iron overload. Survival analyses in long-term studies showed that in the absence of cirrhosis and diabetes, iron removal by phlebotomy therapy prevents further tissue damage and guarantees a normal life expectancy. Patients with massive and long-lasting iron overload had a worse prognosis than those with less severe iron excess. Iron removal in general ameliorated liver disease, weakness and cardiac abnormalities, and also prevented the progression of endocrine alterations. Therapy, however, did not influence insulin-dependent diabetes. Most deaths in patients with hereditary haemochromatosis were caused by liver cancers which often occurred many years after complete iron removal. In patients with haemochromatosis, liver cirrhosis, cardiomyopathy, and diabetes mellitus are also significantly more frequent causes of deaths when compared with the general population. Further strategies have to evaluate the design of screening programmes in order to diagnose more patients in the precirrhotic and asymptomatic stage.
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PMID:Clinical spectrum and management of haemochromatosis. 788 Nov 58

Autoimmune chronic active hepatitis is a rare type of chronic active hepatitis which occurs with a bimodal age distribution (10 to 30 or > or = 50 years) most frequently in women. It is characterized by negative markers for other possible (e.g. viral) etiologies, hypergammaglobulinemia and a number of circulating autoantibodies. According to the latter, several subgroups can be discriminated today. Histology shows chronic active hepatitis with chronic, sometimes plasma-cell-rich infiltration of portal tracts and piece-meal necroses. Symptoms and signs are classically non-specific and include general malaise, lethargy and fatigue. Accompanying autoimmune diseases may be present. The disease is today, however, also frequently diagnosed in an early, asymptomatic stage. Cause(s) and pathogenetic mechanism(s) of the increasingly heterogeneous appearing disease remain unknown. Recent observations seem to indicate that as yet undetermined (exogenous) substance(s) and the hepatitis C virus may, at least in certain subgroups, trigger autoimmune reactions, which may then perpetuate on the basis of a permissive (immuno)genetic background. Untreated, the disease is, in general, progressive, leads to cirrhosis and shows a mortality of up to > or = 50% in 2 to 4 years. Signs potentially indicating a nonfavorable prognosis include high inflammatory activity and the presence of cirrhosis at diagnosis. Typically, immunosuppressive therapy with corticosteroids (with or without azathioprine) results in remission of inflammatory, but usually not fibro-genetic activity with its potential for cirrhosis. Exacerbations after cessation of treatment are not infrequent (> or = 50%), and indefinite therapy is required in a number of patients, despite its potential for unwanted effects (e.g. osteopenia). Such therapy may increase the 5-year survival rate to > 80%. Liver transplantation remains the sole therapeutic option in end stage disease.
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PMID:[Autoimmune chronic active hepatitis]. 845 13

We report the case of a 65-year-old woman with a 10-year history of biliary disease and a 3-year history of anaemia, lethargy, angina and recurrent ascending cholangitis; she had hereditary haemorrhagic telangiectasia (HHT) with aneurysms in the splanchnic circulation, and was assumed to have secondary biliary cirrhosis with portal hypertension and hypertrophic obstructive cardiomyopathy. Her portal hypertension was caused by secondary biliary cirrhosis induced by intrahepatic gallstones; this was associated with left ventricular hypertrophy and a high cardiac output, caused by increased splanchnic circulation, and with aneurysms in the superior mesenteric and pancreaticoduodenal arteries, which were visualized by angiography. We conclude that HHT can produce abnormal abdominal vascular anatomy, which affects haemodynamic performance and makes it difficult to manage a patient with portal hypertension caused by secondary biliary cirrhosis. HHT has been shown to be associated with intrahepatic biliary stones and might have a causal role. When assessing patients with this type of condition for liver transplantation, particular attention should be paid to haemodynamic and circulatory abnormalities.
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PMID:Hereditary haemorrhagic telangiectasia and secondary biliary cirrhosis. 859 Jan 49

The purpose of this investigation was to evaluate the significance of enzymatic and biochemical analyses in the classification of chronic inflammatory liver disease and to evaluate the prognosis of these diseases. Chronic hepatitis and cirrhosis were diagnosed by histopathological examination in 79 dogs. Decreased appetite and lethargy were the most common owner complaints (46/79). Vomiting and, or, diarrhoea were reported in 27/79 dogs. Ascites was the most common clinical sign (43/79), whereas icterus was a more unusual finding demonstrated in 16/79 dogs. Liver cirrhosis was diagnosed most frequently, in 33/79 dogs, followed by chronic progressive hepatitis (22/79), chronic cholangiohepatitis (13/79), and chronic non-specific hepatitis (11/79). Hypoalbuminaemia was the most consistent biochemical aberration in liver cirrhosis (25/26) and in chronic progressive hepatitis (13/18). These diseases also showed normal to mildly increased concentrations of serum alanine aminotransferase (ALT) and serum gamma-glutamyl transferase (GGT) and a moderate to marked increase of serum alkaline phosphatase (ALP) and fasting serum bile acid (SBA) concentrations. As expected, icterus and markedly elevated ALT, ALP, GGT and SBA levels were demonstrated in chronic cholangiohepatitis. In this disease hypoalbuminaemia was shown in 6/12 dogs, whereas in dogs with chronic non-specific hepatitis, mean SBA and albumin concentrations were normal. In liver cirrhosis the prognosis was poor, with 94 per cent of the dogs dead within one week of established diagnosis. For dogs with the other types of chronic hepatitis the prognosis was more favourable with the mean survival time ranging from 21.1 to 36.4 months.
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PMID:Diagnosis and prognosis of chronic hepatitis and cirrhosis in dogs. 892 20

Primary biliary cirrhosis (PBC) is a chronic, cholestatic disease of unknown etiology commonly affecting women. It is characterized by progressive destruction of the small intrahepatic bile ducts and portal inflammation, leading to fibrosis and cirrhosis. The major signs and symptoms of PBC, which include pruritus, lethargy, the sicca syndrome, and osteoporosis, closely resemble the manifestations of hypervitaminosis A. Based on a review of the literature and other observations connecting PBC with retinoid metabolism (vitamin A and its derivatives), the hypothesis is proposed that exposure to excess endogenous retinoids contributes to the pathogenesis of PBC and may be to the cause of some of the signs and symptoms associated with the disease.
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PMID:Possible role of endogenous retinoid (Vitamin A) toxicity in the pathophysiology of primary biliary cirrhosis. 1096 36

Hereditary haemochromatosis is a very common genetic defect in the Caucasian population, with an autosomal recessive inheritance. It is characterized by inappropriately increased iron absorption from the duodenum and upper intestine, with consequent deposition in various parenchymal organs, notably the liver, pancreas, joints, heart, pituitary gland and skin, with resultant end-organ damage. Clinical features may be non-specific and include lethargy and malaise, or reflect target organ damage and present with abnormal liver tests, cirrhosis, diabetes mellitus, arthropathy, cardiomyopathy, skin pigmentation and gonadal failure. Early recognition and treatment (phlebotomy) is essential to prevent irreversible complications such as cirrhosis and hepatocellular carcinoma. The history of this condition dates as far back as 1865, but in the last decade great advances have been made. We discuss the genetics, pathophysiology, clinical features, diagnosis and management of a condition that could easily present to a generalist, and is an important diagnosis not to miss.
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PMID:Hereditary haemochromatosis. 1583 70

From 1994 to 2002, tissues from 61 prairie dogs were submitted to Northwest ZooPath for histopathology. Of these, 12 (20%) had hepatocellular carcinoma (HCC). Three were pets submitted from private veterinary practices. The others were submitted from zoos in the United States. All were adults, ranging from young adult to 7 years of age, with average age of 5.1 years. The most common clinical signs were weight loss, lethargy, palpable abdominal mass, and respiratory difficulty. All tumors were well-differentiated HCCs in which four histologic patterns were recognized. The trabecular pattern was predominant in nine tumors, and the pseudoglandular pattern was predominant in two tumors. The pelioid pattern was also represented in eight tumors. A papillary pattern was present in one case. In seven cases vacuolar change resembling lipidosis was present in the neoplastic hepatocytes of both primary and metastatic tumors. Anaplasia was mild to moderate in most tumors, but a marked degree of anaplasia was noted in the metastatic foci of the case with papillary differentiation. Metastasis to lung was noted in five cases. One of these also had metastasis to the spleen, and another had metastasis to heart and mediastinum. In two cases there was concurrent hepatitis and in two cases, cirrhosis. All tumors and nonneoplastic liver stained negatively for woodchuck hepatitis virus surface and core antigens, and orcein and Victoria blue positive staining of hepatocytes typical of hepadnavirus infection in humans and woodchucks was not present. HCC is apparently common in captive prairie dogs. The hepatic neoplasia observed in prairie dogs was similar to that associated with hepadnaviral infection in humans, woodchucks, and ground squirrels, but no direct evidence of hepadnaviral infection was detected. The rate of metastasis in captive prairie dogs was higher than that reported in woodchucks.
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PMID:Hepatocellular carcinoma in black-tailed prairie dogs (Cynomys ludivicianus): tumor morphology and immunohistochemistry for hepadnavirus core and surface antigens. 1523 35

A 55-year-old man was admitted with a four-month history of lethargy, dyspnea and ascites. An idiopathic liver cirrhosis was suspected to be responsible for these symptoms and for elevated hepatic enzymes on blood tests. A few months before he had an angioplasty on the left anterior descending artery for an acute coronary syndrome (ACS). The intervention was complicated by coronary perforation which required the implantation of a polytetrafluoroethylene-covered (PTFE) stent to seal the rupture. On admission, pressure measurements during cardiac catheterism revealed a typical right ventricular dip-plateau consistent with the diagnosis of constrictive pericarditis (CP). Magnetic resonance imaging (RMI) showed localized pericardial thickening next to the right ventricle. We suspect hemopericardium, due to coronary perforation, is responsible for constrictive pericarditis. This mid-term complication of coronary rupture has not been reported before and should be suspected in this particular clinical setting.
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PMID:An unusual mid term complication of coronary rupture. 1601 14

The term hemochromatosis is commonly used as synonymous with HFE-associated genetic iron overload but several rarer causes of an identical clinicopathological syndrome have been described in recent years. The most common symptoms are lethargy and arthralgia, and the major complications of end-stage disease are cirrhosis, diabetes, and cardiac and endocrine manifestations. However, with the development of cascade screening for family members of affected probands as well as screening for common diseases at health checks, hemochromatosis is being detected at increasingly early stages, often when there are only biochemical abnormalities. The available evidence from screening studies strongly suggests that approximately 75% of C282Y homozygous subjects have biochemical expression. Hepatic iron overload is present in approximately 56% and 34% of men and women, respectively, advanced hepatic fibrosis in 18.7% and 5.4%, respectively, and cirrhosis in 5.8% and 1.9%, respectively. In subjects with severe expression of the disease, additional modifying genetic mutations have been described including those in hepcidin and hemojuvelin. Treatment is by regular phlebotomy which, if instituted before the development of cirrhosis, results in normal life expectancy.
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PMID:Clinical aspects of hemochromatosis. 1631 32


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