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)

Using isoelectric focusing in polyacrylamide gel, alpha-1-antitrypsin phenotyping was carried out in 1,000 normal Nigerians and in 25 with hepatocellular carcinoma, 17 with cirrhosis of the liver and 193 with neonatal jaundice. The percentage frequency of the homozygous alpha-1-antitrypsin deficiency state (PiZZ) in the normal, healthy population was 0.2% compared with 4% in those with hepatoma, 5.9% in those with liver cirrhosis and 0.5% in those with neonatal jaundice. These findings suggest that alpha-1-antitrypsin deficiency may be a contributory factor in the pathogenesis of hepatocellular carcinoma and cirrhosis of the liver in Nigeria.
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PMID:Alpha-1-antitrypsin deficiency and liver diseases in Nigeria. 217 65

The alpha-1-antitrypsin gene is localized to chromosome 14. Numerous genetic variations may occur and some of these result in severely reduced concentration in the serum. The commonest cause of severe deficiency of alpha-1-antitrypsin is the gene-variant Z in the homozygotic form which occurs in one out of 2,000 Danes. Severe deficiency in alpha-1-antitrypsin results in liver symptoms in approximately 10% of the children. Some of these will develop cirrhosis of the liver. In adults at the ages of about 30 to 40 years, gradual development of emphysema occurs and this is earliest and most pronounced in smokers. Adults have also increased frequency of cirrhosis but this is much less pronounced than the development of emphysema. In addition to a number of theoretical therapeutic possibilities, liver transplantation is now possible and this is employed particularly in children with cirrhosis. In young persons with terminal pulmonary insufficiency with anticipated survival for less than one year, heart/lung transplantation or possibly isolated lung transplantation may be considered. An alpha-1-antitrypsin concentrate has been produced. Intravenous dosage once monthly can provide a concentration in the serum for three to four weeks which, as a rule, suffices to prevent emphysema. It is not yet known whether this treatment has any prophylactic effect in cases of developed emphysema. It is to be anticipated that treatment instituted prior to development of emphysema will prevent development of pulmonary disease but the treatment is rather expensive and must, probably, continue throughout life. No controlled investigation of the effect of treatment is available and the range of indications is not defined.
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PMID:[New therapeutic possibilities in alpha 1-antitrypsin deficiency]. 218 56

We report the rare case of a 27-year-old man with decompensated cirrhosis of the liver caused by a deficiency of alpha-1-antitrypsin. The patient was scheduled for liver transplantation. Diagnostic procedures prior to surgery revealed an unusual hepatofugal collateral channel with a marked mesenterico-, lieno-, and renocaval shunt. Since the liver cirrhosis had already been manifest during early infancy, this shunt had formed spontaneously without developing esophagogastric varices.
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PMID:[A rare mesentericocaval shunt in a case of alpha 1-antitrypsin deficiency]. 232 47

About 15% of children with alpha-1-antitrypsin-deficiency with proteinase inhibitor type ZZ develop hepatopathy, uninfluenceable in its course. These children already show symptoms of severe cholestatic hepatitis in early infancy as became obvious from data of 13 children being patients in the authors care and suffering from hepatic cirrhosis with alpha-1-antitrypsin-deficiency. At present liver transplantation is the only causal possibility of therapy. Even without highly specialized laboratory the non-laboratory assistant will recognize at least the homozygous alpha-1-antitrypsin-deficiency (PI-ZZ). The therapeutic approach must be directed on treating the patients in such a way that liver transplantation will be possible at a favourable moment and under good conditions. Since PI-ZZ family members suffer similar course of hepatopathy, genetic counsel is of special significance.
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PMID:[Liver diseases in alpha 1 antitrypsin deficiency syndrome in children]. 233 11

Between July 1987 and May 1989, 11 liver transplants were performed on 10 patients at the University Hospital of Geneva. Of 15 patients evaluated for elective transplantation, 10 were accepted and put on the waiting list. 5 patients were rejected because of a contraindication or because another treatment seemed preferable. 8 transplantations were eventually performed. Emergency transplantation was considered for 6 patients, but could be performed in only 3. Indications for transplantation were as follows: one hepatocellular carcinoma in a non-cirrhotic patient, 2 post-hepatitis cirrhoses (one B and one non-A-, non-B), 3 primary biliary cirrhoses, one autoimmune cirrhosis, one primary sclerosing cholangitis, one cirrhosis on alpha-1-antitrypsin deficiency, and one fulminant B-Delta hepatitis. Most of these patients had advanced liver disease and a limited life expectancy. 8 of the 10 patients transplanted are nevertheless alive and none is hospitalized at the present time. More than mere survival, however, quality of life regained after transplantation prompts us to consider transplantation early in the progress of the disease. Earlier evaluation of patients would make transplantation feasible soon after the first complication of the disease. This attitude would probably prevent patients from dying while on a waiting list and decrease operative as well as early postoperative risks. Better information and coordination regarding potential donors is necessary in Switzerland to obtain better results in organ transplantation.
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PMID:[Liver transplantation. Preliminary results in the district University Hospital of Geneva]. 237 94

Immunostaining for alpha-1-antitrypsin (AAT) was applied on paraffin-embedded liver specimens from 38 Pi Z phenotype (27 Pi MZ; 9 Pi ZZ; 2 Pi SZ) individuals (33 adults, 5 newborns). Histological diagnoses included normal liver, various forms of chronic hepatitis, cirrhosis. A positive hepatocytic staining for AAT was revealed in all cases, whereas on PAS-D staining 5 cases were negative. Immunostaining revealed different patterns: type I: fine solid granules or coarse laminated globules filling the whole liver cell cytoplasm; type II: positive granules marginated towards the cell's periphery; type III: positive granules restricted to focal areas in the cytoplasm. Type I and III patterns were observed in all specimens. Association of type I and III with type II was seen in all Pi MZ and Pi SZ cases, but only in 3 of the 9 Pi ZZ specimens. To check the specificity of these staining patterns for the Z allele of AAT in adults and newborns, 180 further cases were investigated blindly by immunohistochemistry. Recognition of hepatocytic staining patterns type I, II and III allowed to reliably diagnose the Pi Z phenotype in 6 cases, whose heterozygous state was confirmed by independent serum phenotyping (5 Pi MZ, 1 Pi SZ). These results allow to conclude that: (1) immunohistochemistry is a reliable technique (superior to PAS-D staining) to identify Pi Z individuals (homo- and heterozygotes) on paraffin-embedded liver sections; (2) heterozygotes Pi MZ and Pi SZ cannot be differentiated without serum phenotyping; (3) immunohistochemistry is helpful in distinguishing between Z homozygotes from heterozygotes, but determination of AAT serum concentration is required to allow confident distinction without phenotyping. AAT immunohistochemistry thus allows to diagnose the Z allele of AAT when phenotyping procedures are not available or in retrospective studies on biopsy and autopsy material.
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PMID:Detection of Pi Z phenotype individuals by alpha-1-antitrypsin (AAT) immunohistochemistry in paraffin-embedded liver tissue specimens. 242 68

Primary liver carcinoma (PLC) may express a certain number of markers. Here we communicate results of an analysis of five such markers (alpha-1-antitrypsin--AAT--, carcino-embryonic antigen --CEA--, alpha-fetoprotein --AFP--, and superficial --HBsAg-- and core --HBcAg-- antigens of hepatitis B virus) by means of PAP techniques in 130 cases of PLC, comparing the neoplastic tissue and the non-tumorous liver. Three variants of PLC are distinguished: hepatocarcinoma (HC) (108 cases); cholangiocarcinoma (CC) (19 cases); and three cases of hepatocholangiocarcinoma (HCC). AAT was positive in 29 HC, 2 HCC, and negative in all 19 CC. CEA appeared positive in 16 HC, 16 CC and only one HCC. AFP was positive in two HC, and negative in all CC and HCC. HBsAg displayed positivity in 15 HC and one HCC, being negative in all 19 CC. HBcAg was positive in 4 HC, and negative in all CC and HCC. HBsAg was also positive in two neoplastic emboli associated with HC. On the non-tumorous liver tissue the immunohistochemical results showed positivity for AAT and CEA, but not for AFP. Therefore the present results confirm that in the geographical area from which these tumors proceed, PLC is closely correlated with HBsAg positivity and with cirrhosis.
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PMID:Immunohistochemical characterization of 130 cases of primary hepatic carcinomas. 244 80

Hepatocellular carcinoma (HCC) is a rapidly fatal neoplasm of high worldwide prevalence. Fibromellar carcinoma (FLC), a variant of HCC, lacks the dismal prognosis of "ordinary" HCC (O-HCC) and is characterized by a diagnostic histologic appearance. The current study analyzes the clinical characteristics, immunohistochemistry, and treatment of nineteen cases of FLC. These data, together with a detailed review of the literature, further characterize this unique variant. FLC affects younger patients and lacks the male predominance of O-HCC. Also, FLC lacks specific association with cirrhosis, hepatitis B virus infection, use of oral contraceptives, and alcohol abuse, all of which are implicated in other hepatic tumors. This, along with differences in serum tumor marker prevalence (AFP, B12 binding protein) suggests that its pathogenesis differs from that of O-HCC. Despite these differences, FLC shares a common differentiation with O-HCC. The increased amounts in FLC of stainable alpha-1-antitrypsin, fibrinogen, and C-reactive protein, all of which are acute phase reactants and normal hepatocyte products, implies better differentiation of FLC cells. Finally, the better prognosis of FLC is supported by this study, since only two of the 19 patients died because of tumor. This contrasts with the reported survival of patients with O-HCC, usually measured in weeks. Hepatic transplantation may hold promise for future patients with "surgically unresectable" FLC as procedure-related complications are overcome.
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PMID:Fibrolamellar carcinoma of the liver: an immunohistochemical study of nineteen cases and a review of the literature. 245 77

Both alpha-1-antitrypsin (AAT) and alpha-1-antichymotrypsin (AAC) in serum were investigated in various liver diseases. Serum levels of AAT and AAC in normal controls were 293.3 +/- 37.9mg/dl and 119.6 +/- 18.9U/ml, respectively. Both AAT and AAC were significantly higher in 75 patients with primary hepatocellular carcinoma (PHC) than in patients with acute viral hepatitis, chronic hepatitis, liver cirrhosis as well as normal controls. In a cut-off value of more than 400 mg/dl AAT showed a sensitivity rate (SS) of 74.7%, specificity (SP) of 97.3%, positive predictive value (PV+) of 86.2%, negative predictive value (PV-) of 95.5% and a total accuracy of 93.3% for diagnosing PHC. In a cut-off value of more than 157 U/ml, the corresponding figures for AAC were 68.0%, 96.7%, 86.4%, 90.6% and 90.0%. If the increased levels in one or both tests are positive, the combined positive rate is 80.0% in PHC. In 11 PHC cases with serum alpha-fetoprotein (AFP) less than 50 ng/ml, the positive rate of AAT and AAC were 72.7% and 81.8%, respectively, compared to corresponding figures of 71.7%, and 65.2% in 46 cases of PHC with more than 50 ng/ml of AFP. It shows that combined assay of both serum AAT and AAC has a complemental value in the diagnosis of PHC, especially in patients without increased AFP.
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PMID:Serum alpha-1-antitrypsin and alpha-1-antichymotrypsin in the diagnosis of primary hepatocellular carcinoma. 256 53

Liver needle biopsies of one hundred infants and children were examined. In fifteen of them the liver was normal. Of the 85 patients with liver disease three had liver changes due to severe alpha-1-antitrypsin (AAT) deficiency. In two cases fibrosis and inflammation of the portal fields could be seen. In the third case in addition to portal fibrosis and moderate periportal inflammation paucity of the intrahepatic bile ducts was found. Characteristic PAS-positive diastase resistant hepatocellular globules occurred only in one case but, using immunoperoxydase method, periportal hepatocytes showed AAT positivity in all three infants. Of 830 adult patients with liver cirrhosis 8 had PAS-positive diastase resistant AAT immunoreactive globules in the periseptal hepatocytes suggesting AAT deficiency, however, the serum AAT level and the phenotype of them were unknown. Investigation for AAT deficiency should be carried out in children and young adults with a history of neonatal liver disease and possibly in all patients with liver disease of uncertain etiology, especially in those with PAS-positive, AAT immunoreactive hepatocellular globules.
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PMID:[Liver changes suggesting alpha-1-antitrypsin deficiency (a neglected disease)]. 267 44


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