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)

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

Liver biopsies obtained during the first six months of life were studied in 15 children who had prolonged neonatal cholestasis and alpha-1-antitrypsin deficiency (Pi ZZ). Intracellular PAS-positive globules were always observed, even during the first months of life. At this early stage of the disease, three morphologic patterns of hepatic alteration were distinguished. Group 1: six cases with cholestasis, hepatocellular damage, and slight portal fibrosis; Group 2: five cases with important portal fibrosis and bile duct proliferation; and Group 3: four cases in which ductular hypoplasia was the main feature. A correlation between histologic patterns and clinical course may be established: improvement of liver injury in Group 1, early cirrhosis in Group 2, and prolonged cholestasis in Group 3. The natural evolution of the disease appears to be different in each of the three groups.
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PMID:Histopathologic study of the liver in the early cholestatic phase of alpha-1-antitrypsin deficiency. 18 52

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

Serum levels of alpha 1-antitrypsin were measured in 118 patients. Among these, 90 subjects presented with hepatic pathology of which 42 were of cryptogenetic origin. Not one of the subjects studied showed a decrease in alpha 1-antitrypsin nor did the results of liver biopsies prove positive for PAS cytoplasmic corpuscles. It is suggested that alpha 1-antitrypsin deficit does not play an important role in cryptogenetic cirrhosis.
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PMID:[Alpha 1 antitrypsin in cryptogenetic cirrhosis (author's transl)]. 31 72

A study of 27 relatives of a child with fatal hepatic cirrhosis due to homozygous Z variant alpha-1-antitrypsin deficiency revealed 15 members with heterozygous MZ phenotypes. Levels of circulating alpha-1-antitrypsin and trypsin-inhibiting capacity were shown to be unreliable in identifying the heterozygous state, Pi typing being necessary for definitive diagnosis. The morphologic evolution of the hepatic changes in this condition have been studied, and the importance of the PAS stain in identification of the characteristic cytoplasmic bodies is stressed.
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PMID:Childhood cirrhosis associated with alpha-1-antitrypsin deficiency. A genetic, biochemical, and morphologic study. 107 52

Sixty-nine specimens of liver tissue from 53 infants with neonatal hepatitis or its sequelae were examined without knowledge of the alpha1-antitrypsin phenotype. Distinctive, diastase-resistant, PAS-positive, pure magenta-coloured, sharply defined globules, 2-20 microns in diameter were found in periportal and paraseptal hepatocytes in all liver biopsies from eight alpha1-antitrypsin deficient (PiZZ) infants biopsied after the age of 12 weeks. Such globules were not seen in biopsies from PiZZ individuals aged less than 12 weeks nor in individuals of normal alpha1-antitrypsin phenotype (PiMM). No other specific histological abnormality was found in PiZZ individuals, but in them giant-cell transformation was infrequent and liver damage was more severe, three of 14 cases developing cirrhosis in contrast to four of 27 PiMM subjects. The pathogenesis of liver disease in PiZZ individuals is discussed.
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PMID:Liver disease in infancy: histological features and relationship to alpha-antitrypsin phenotype. 108 Jan 60

A case of a 70-year-old woman with a history of gastric ulcer and several pneumonias is presented. She was found to have pulmonary emphysema, severe alpha-1-antitrypsin (alpha1AT) deficiency and raised serum mitochondrial antibodies. Surgical liver biopsy showed portal liver cirrhosis, PAS-positive, diastaseresistant globules in the hepatocytes and changes interpreted as florid duct lesion of primary biliary cirrhosis. A brother has severe alpha1AT deficiency. Two daughters had raised mitochondrial antibodies. One of the latter had a granulomatous hepatitis, a common finding in primary biliary cirrhosis. The association of alpha1AT deficiency and primary biliary cirrhosis does not seem to have been described previously.
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PMID:Alpha-1-antitrypsin deficiency, mitochondrial antibodies and possible primary biliary cirrhosis. A case report and family study. 108 Sep 23

A 63 year old woman with cryptogenic cirrhosis, ascites, portal hypertension, and intermediate levels of alpha-1-antitrypsin of protease inhibitor SZ phenotype who died of esophageal variceal hemorrhage is described. The partial deficiency of alpha-1-antitrypsin and the diagnosis of cirrhosis were suspected one year prior to death because a needle biopsy of liver showed PAS positive, diastase resistant cytoplasmic bodies within hepatocytes. This report illustrates three previously undescribed features: (1) Heterozygous protease inhibitor SZ phenotype may be associated with coarsely nodular cirrhosis in the older adult. (2) The large intracytoplasmic glycoprotein droplets that are distinctive by light microscopy are probably formalin induced aggregates of submicroscopic flocculent material. (3) In the older patients with aberrant alpha-1-antitrypsin the flocculent material is present not only in the granular endoplasmic reticulum but also in smooth endoplasmic reticulum vesicles and cytolysosomes.
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PMID:Cirrhosis associated with partial deficiency of alpha-1-antitrypsin: a clinical and autopsy study. 108 82

The sea-blue histiocyte syndrome, similar to Niemann-Pick disease, is a congenital, hereditary histiolipidosis due to an inborn enzymatic error. Accumulation of non saturated, oxidated, polymerized lipids is observed; ceroids of lipofuscin, glycophospholipids and sphingomyelin, like bulky granules 1 to 3 u in diameter, turn blue with May Grunwald staining, orange reddish with PAS and black with Sudan III and osmic acid. The sea-blue histiocytes are preferably located at the bone marrow, liver and spleen and less frequently in lymph nodes, lungs and some other organs. The prognosis is variable: fatal in the central nervous system location, relatively mild in cases of spleen and bone marrow location. The possibility of complicating hepatic cirrhosis and/or pulmonary fibrosis is always present. Seven cases are described in this paper, 4 of them family related. Acute myelomonocytic leukemia in one case and histioimmunoblastic lymphoma in another were complications not yet reported in the literature.
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PMID:[Sea-blue histiocyte syndrome]. 172 57

A 34 year old woman admitted to the department of Gastroenterology of Florence hospital was diagnosed as suffering from liver cirrhosis with an alpha-1 antitrypsin deficiency (PiZZ phenotype). Liver biopsy showed the presence of intra-hepatocyte PAS-positive inclusions and the presence of alpha-1 antitrypsin was confirmed using the immunoperoxidase technique. No other organ appeared to be affected and respiratory function tests were within normal limits. The quantitative assay of alpha-1 antitrypsin was higher than values reported in the literature for PiZZ homozygotes. The authors report the case and discuss some aspects of this disease.
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PMID:Cirrhosis associated with homozygous alpha-1 antitrypsin deficiency in the adult: a case report. 175 19


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