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)

It is well known that incidence of chronic obstructive lung disease in adult patients with alpha 1-antitrypsin deficiency (ATD) is high. Adult carriers of this genetic trait with cirrhosis of the liver, and also with fibrosis of the liver and hepatoma, have been reported. A causal relationship between ATD and liver lesions has been suspected. In most cases liver disease has been recognized at post morten, - in a few cases, however, intra vitam, when severe symptoms of the liver disease had become apparent. The case of a 59 year-old patient is reported with PIZZ-homozygous ATD, moderate pulmonary emphysema and with marked portal fibrosis and focal transition in cirrhosis of the liver without any sequelae. The clinical course has been rather benign so far.
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PMID:[Alpha 1-antitrypsin deficiency, liver cirrhosis and pulmonary emphysema (author's transl)]. 16 Apr 81

Theoccurrence of PAS-positive, diastase-resistant, inclusion bodies in hepatocytes has been used as a marker of heterozygous (Pi MZ) alpha1-antitrypsin deficiency in order to study the frequency of lung, liver and malignant disease in a consecutive autopsy material from a well defined population. Typical PAS-positive inclusion bodies were found in the liver in 26 (3.7%) of the 700 cases studied. In these 26 subjects both liver (cirrhosis or fibrosis) and lung disease (emphysema) were significantly more prevalent (p less than 0.001) than among PAS-negative controls. The prevalence of malignant disease did not differ between the groups. The results are consistent with the concept that heterozygous (Pi MZ) alpha1-antitrypsin deficiency predisposes to both liver and lung disease but does not influence the survival rate.
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PMID:Liver, lung and malignant disease in heterozygous (Pi MZ) alpha1-antitrypsin deficiency. 17 17

The cytoplasmic bodies in hepatocytes thought to indicate possession of the Z allele for alpha 1-antitrypsin deficiency were found in necropsy in 10 of 64 adults with cirrhosis, four of nine with hepatic fibrosis, and four of 15 with hepatocellular carcinoma. They were also found in six of 76 adults with severe panacinar emphysema, and in four of a control series of 110 adults with neither emphysema nor liver disease. The association of the bodies with each of the three liver diseases was statistically significant, but the association of the bodies with emphysema was not. It is considered probable that heterozygous (PiMZ) alpha 1-antitrypsin deficiency is associated with an increased incidence of cirrhosis, hepatic fibrosis, and hepatocellular carcinoma.
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PMID:Alpha-1-antitrypsin bodies in the liver. 19 72

Thirty years ago Berkson recognized that differences in selection rates of different diseases for admission to the hospital will systematically change the frequency with which those diseases co-exist in hospitalized patients from the frequency rate in the general population. Mainland subsequently demonstrated that postmortem studies systematically show a lower co-morbidity rate for any two individually lethal diseases than would be expected from the individual prevalence of these diseases. In studying the concurrence of bacterial endocarditis and cirrhosis, we examined the relationship of these diseases at autopsy where, according to this concept, we would expect a negative association. We found the frequency of bacterial endocarditis to be three times greater in cirrhotic than in non-cirrhotic patients, a statistically significant difference that was even more convincing, since a negative correlation was anticipated. In accord with the Berkson-Mainland hypothesis, however, no such association was seen between bacterial endocarditis and either emphysema or myocardial infarction, two other chronic diseases of different lethality. Similarly, glioblastoma multiforme, a brain tumor with a high mortality rate, showed a negative correlation with cirrhosis, emphysema, and myocardial infarction. A corollary of this bias-that the mean age at death should be lower in patients dying with two lethal diseases than in patients dying of either disease alone-was supported by our study. This investigation provides evidence to validate the Berkson-Mainland hypothesis, and suggests that rather than being always an adverse bias, it may be used beneficially to document the validity of the increased co-existence of diseases at autopsy.
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PMID:The Berkson bias in action. 22 78

The medical literature has emphasized repeatedly the association of alpha1-antitrypsin deficiency with panacinar emphysema and cirrhosis of the liver. Previous reports have linked bronchiectasis with alpha1-antitrypsin deficiency. The present case confirms this association and adds the presence of an hepatic abnormality characteristics of alpha1-antitrypsin deficiency to complete the syndrome. The patient's phenotype was found to be MDuarteZ. It has been suggested that patients with diffuse bronchiectasis should be screened for alpha1-antitrypsin deficiency. We would add that a complete assessment of hepatic function, including liver biopsy, should be carried out in those individuals with reduced levels of alpha1-antitrypsin.
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PMID:Alpha1-antitrypsin deficiency with diffuse bronchiectasis and cirrhosis of the liver. 30 Jun 68

A case of alpha1-antitrypsin deficiency with liver cirrhosis bioptically diagnosed is described. The 49 year old woman had a decreased serum-level of alpha1-antitrypsin and characteristic, PAS-positive, diastase-resistant conclusions in the cytoplasma of the liver cells. An emphysema of the lungs was not seen.
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PMID:[Casuistic contribution to alpha1-antitrypsin deficiency with liver cirrhosis in adulthood (author's transl)]. 30 40

A patient who manifested both pulmonary and hepatic disease associated with alpha1-antitrypsin deficiency is described. The biological function of alpha1-antitrypsin is discussed, as well as the inheritance of deficiency states and the spectrum of disorders which may ensue. Severe deficiency of alpha1-antitrypsin has been linked with pulmonary emphysema in adult life, progressive liver disease in childhood, adult cirrhosis but rarely with both pulmonary and liver disease.
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PMID:Alpha1-antitrypsin deficiency--a literature review and a case report of a patient with chronic obstructive airways disease and cirrhosis. 30 99

Two unreleated adult males were found to be suffering from an association of pan-lobular severe emphysema and hepatomegally of unknown origin which led to the discovery of a marked deficit in alpha-1 antitrypsin (A1-AT) in relation to a PiZ phenotype. Liver biopsy revealed cirrhosis with portal fibrosis in one case and in both cases fatty infiltration with the accumulation of a glycoprotein antigenically identical to A1-AT. Electron microscopy showed this protein to be situated within the dilated lumina of the endoplasmic reticulum of the hepatocytes. A1-AT deficiency is usually associated with pulmonary involvement only in the adult and liver involvement only in the child. The association of the two remains rare--hence the interest of the two cases reported.
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PMID:[Pulmonary emphysema and hepatic involvement by alpha-1 antitrypsin deficiency in two adults with a PiZ phenotype (author's transl)]. 30 25

Clinical data from 246 adult Swedish individuals with severe alpha1-antitrypsin deficiency, Pi Z, diagnosed in 1963--77, were analyzed. Primary emphysema was present in 109 cases. Of 75 Pi Z patients with other types of chronic obstructive pulmonary disease (COPD), all but 7 showed signs of emphysema. Median age at onset of dyspnoea in Pi Z smokers was 40 years, compared to 53 in non-smokers (p less than 0.001). Of the Pi Z individuals over the age of 50, 19% had a diagnosis of liver cirrhosis and 15% signs of glomerular renal damage. Of 91 deceased patients, 56 died from COPD and 12 from liver disease. A greatly reduced survival was demonstrated in Pi Z individuals, regardless of sex. Smoking Pi Z individuals had a significantly lower life expectancy than Pi Z non-smokers (p less than 0.01).
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PMID:Natural history and life expectancy in severe alpha1-antitrypsin deficiency, Pi Z. 30 8

The disease course is described in 21 patients with low serum concentrations of alpha1-antitrypsin of the phenotype Z (genotype pi ZZ). 13 of these patients have long-standing disease characterized by bronchitis or dyspnea beginning before the age of 40 and progressing to emphysema (11 patients) and to corpulmonale (7 patients). The remaining 8 patients are children with hepatopathy characterized by prolonged jaundice at birth, persistent hepatomegaly and persistently elevated liver enzymes. In 2 children, the evolution to cirrhosis was ascertained by biopsy.
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PMID:[Severe alpha 1-antitrypsin deficiency: clinical observations of 21 patients]. 31 May 77


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