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)

The alpha 1-antitrypsin (AAT) or protease inhibitor (Pi) genetic polymorphism was studied in 144 white, 100 coloured, 104 Indian and 127 black (Northern Sotho) healthy individuals (controls), in the Pretoria area. Their Pi phenotype and gene frequency distributions are compared with world-wide data on other population groups. The severely deficient Pi phenotypes S, Z and SZ jointly attain frequencies of 0.3-0.4% in coloureds and whites; in blacks and Indians the corresponding frequencies are very much lower. The implication for preventive medicine and public health is that in South Africa the sequelae of Pi deficiencies such as cirrhosis of the liver and/or emphysema of the lung are of practical importance in whites and coloureds and much less so in blacks and Indians. In 176 white breast cancer patients studied, the Pi phenotype and gene frequency distributions were found to be similar to those of healthy controls (not statistically significant). Cohorts of other patients were also phenotyped because of their low alpha 1-globulin concentrations in routine serum protein electrophoresis and/or their specific disease condition (cirrhosis of the liver or emphysema of the lung) known to be associated with AAT deficiency. These results are discussed in terms of their significance for family follow-up, genetic counselling and a preventive service. The need to avoid atmospheric pollution, especially cigarette smoke, is emphasised as a major and cost-effective preventive measure.
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PMID:Alpha-1-antitrypsin genetic polymorphism in South Africa. 349 69

By light microscopy and immunoperoxidase methods, morphology and distribution of alpha-1-proteinase inhibitor (Api) cells in the pancreatic islets were studied in seven patients with and in 17 patients without periodic acid-Schiff-positive, diastase-resistant globules in the liver. Five of the seven patients with liver globules had cirrhosis and emphysema, suggesting genetic deficiency of Api, which was confirmed in four by pi phenotyping (blood from one patient was not available). The two remaining patients had only a mild degree of liver fibrosis and mild emphysema and showed a normal MM phenotype. Islet cell hyperplasia and an increased population of Api cells were observed in all five patients with genetic deficiency, compared with the 17 patients without Api deficiency. These morphologic changes were more pronounced in the one homozygous patient than in the heterozygous patients. Nesidioblastosis, ductular proliferation, and atypia of insular cells were seen only in patients with an abnormal phenotype. The increased amount of Api in the islets in the genetic deficiency state may be due to hyperplasia and hypertrophy of Api cells or due to storage of abnormal Api in the preexisting Api cells. The exact stimulus for islet cell hyperplasia and proliferation of Api cells is still unknown.
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PMID:Islet-cell hyperplasia in genetic deficiency of alpha-1-proteinase inhibitor. 351 3

Aryl hydrocarbon hydroxylase activity was detectable in cultured macrophage monolayers of peripheral blood monocyte origin. Peripheral blood monocytes were isolated from patients with biopsy-confirmed liver disease and healthy volunteers. Macrophage monolayers were prepared and incubated at 37 degrees C. After 24 hr, the aryl hydrocarbon hydroxylase activity and cellular protein concentration were assayed on cell homogenates. The monocyte aryl hydrocarbon hydroxylase activity in cultured macrophages from normal volunteers was 1.23 +/- 0.16 (n = 19). The aryl hydrocarbon hydroxylase activity in macrophage cultures from patients with biopsy-confirmed liver disease was 0.48 +/- 0.05 (n = 20). This represents a significant (61%) decrease in monocyte aryl hydrocarbon hydroxylase compared to controls. The 20 patients have established cirrhosis or early stage liver disease. The established cirrhosis group includes alpha 1-antitrypsin deficiency-associated cirrhosis; primary biliary cirrhosis; alcoholic (Laennec's) cirrhosis; cryptogenic cirrhosis, and hemochromatosis. Early stage liver disease is attributed to methotrexate (Stage III), early stage primary biliary cirrhosis and alpha 1-antitrypsin deficiency. Our results indicate that the depression in monocyte aryl hydrocarbon hydroxylase activity is greater in patients with established cirrhosis than early stage liver disease. Our results further suggest that cultured monocytes from patients with liver disease spontaneously release soluble factors into the culture medium. Incubation of this medium, containing macrophage factors, with isolated hepatocytes significantly depress hepatocyte aryl hydrocarbon hydroxylase activity compared to medium obtained from cultures of monocytes from normal volunteers.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Depression of peripheral blood monocyte aryl hydrocarbon hydroxylase activity in patients with liver disease: possible involvement of macrophage factors. 355 13

Although cirrhosis of the liver caused by alpha 1-antitrypsin deficiency is not uncommon in children, only a few cases have been described in adults. We have seen three such patients--one man and two women, ranging in age from 57 to 66 years. These cases show the wide spectrum of this genetically influenced disease.
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PMID:Alpha 1-antitrypsin deficiency and liver cirrhosis in adults. 387 Dec 55

In a young girl with alpha 1-antitrypsin deficiency (Pi Z), cirrhosis, hypocomplementemia and proteinuria, renal biopsy showed features of type I membranoproliferative glomerulonephritis. Deposits contained IgA, IgG, IgM, Clq, C4 and C3 but not alpha 1-antitrypsin. A review of the literature found 10 similar cases. Type I membranoproliferative glomerulonephritis was present in all. The respective roles of alpha 1-antitrypsin deficiency and hepatic disease in the pathogenesis are discussed; membranoproliferative glomerulonephritis is probably the consequence of the chronic liver disease.
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PMID:[Alpha-1-antitrypsin deficiency and renal involvement]. 387 47

During the past 6 years, 25 consecutive patients with esophageal variceal hemorrhage were treated by esophageal endosclerosis (direct injection of varices with a sclerosing agent). The primary disease in the 25 children was portal vein thrombosis (11 patients), biliary atresia (nine patients), and hepatic cirrhosis from cystic fibrosis (three patients), alpha 1-antitrypsin deficiency (one patient), and neonatal hepatitis (one patient). Thirteen patients were treated during acute, major variceal hemorrhage. Esophageal endosclerosis was repeated at regular intervals until all esophageal varices were obliterated. Twenty-one patients completed therapy. Four patients died: one of a complication of therapy and three of the primary disease. Other than the one death, complications were minor. Recurrent esophageal variceal hemorrhage has not been encountered in follow-up from 9 months to 6 years after completion of therapy.
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PMID:Esophageal endosclerosis in children. 387 48

We report cirrhosis and alpha 1-antitrypsin deficiency in two patients over 50 years of age who had an initial diagnosis of cryptogenic cirrhosis. Serum alpha 1-antitrypsin levels were in the homozygous range and a liver biopsy demonstrated cirrhosis with periodic acid-Schiff-positive, diastase-resistant globules in both. Red intracytoplasmic inclusion globules seen on trichrome staining in the first patient, and a decreased alpha-1 fraction on serum protein electrophoresis in the second suggested the diagnosis. We propose that the diagnosis of alpha 1-antitrypsin deficiency be considered in all patients, regardless of age, and that trichrome staining be part of the routine histologic evaluation in all patients with cirrhosis of uncertain etiology.
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PMID:Alpha 1-antitrypsin deficiency presenting as cryptogenic cirrhosis in adults over 50. 390 38

The accidental finding of raised levels of serum aminotransferase levels may lead to extensive investigations of the liver in apparently healthy people. To identify diagnostic groups and their need for investigations, we have evaluated the results of all investigative procedures carried out in 149 asymptomatic patients with persistently raised serum levels of aminotransferases. Fatty liver was found in 64%. These patients often had a high body weight. A high alcohol intake and diabetes mellitus were also noted. Chronic active or persistent hepatitis was found in 20% of the patients. Six per cent had cirrhosis, 4% had alpha 1-antitrypsin deficiency, and 3.5% had hemochromatosis. Apart from ferritin, alpha 1-antitrypsin, and markers for hepatitis B, blood tests were of little value for distinguishing among different diagnostic groups. This was the case also for the imaging procedures, and neither liver scintigraphy nor ultrasonography was a reliable source of diagnostic information. The results of our study indicate that diagnosis in this group of patients cannot be made without liver biopsy.
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PMID:Liver investigation in 149 asymptomatic patients with moderately elevated activities of serum aminotransferases. 395 45

Polyclonal gammopathy with beta-globulin-gamma-globulin (beta-gamma) bridging has been classically, though not exclusively, described with cirrhosis. We studied two unusual cases that exhibited polyclonal gammopathy with beta-gamma bridging. In the first case, the coexistence of Kaposi's sarcoma appeared with angioimmunoblastic lymphadenopathy. In the second, liver disease developed as a complication of alpha 1-antitrypsin deficiency and retroperitoneal malignant fibrous histiocytoma involving the porta hepatis.
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PMID:Polyclonal gammopathy with beta-globulin-gamma-globulin bridging. Two unusual cases. 616 96

10 cases of congenital deficiency of alpha 1-antitrypsin with liver involvement were identified on clinical grounds; 10 cases of liver cirrhosis were selected by way of the diastase-PAS-reaction. In these 20 cases alpha 1-antitrypsin was demonstrated in paraffin sections by a modification of the indirect peroxidase-antiperoxidase method. In all these cases the immunoreactive inclusions could be demonstrated in the hepatocytes, even when the paraffin sections were several years old. 399 cases of cirrhosis of the liver were investigated in this retrospective study; only 10 of these cases had, as mentioned above, inclusions in the hepatocytes, which were immunoreactive, PAS-positive, and resistant against diastase.
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PMID:[Diagnosis of congenital deficiency of alpha 1-antitrypsin by the immune peroxidase technique (author's transl)]. 625 26


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