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)

Alpha-1-antitrypsin is a glycoprotein of blood exhibiting the properties of a proteolytic enzymes inhibitor. It occurs in a number of polymorphic variants transmitted genetically, the differentiation of which enables to use electrophoretic methods. The authors surveys literature, involving also her own experience, on the diagnostic use of alpha-1-antitrypsin phenotypes. The variants related to alpha-1-AT deficiency are associated with an increased incidence of certain diseases: obstructive pulmonary disease, liver cirrhosis in children, cancer. An early establishment of alpha-1-antitrypsin phenotype may be significant for occupational prevention, furthermore, it may be helpful in the highlighting of etiology of certain liver diseases in early childhood.
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PMID:[Alpha 1-antitrypsin phenotypes and their role in medical diagnosis]. 332 31

A clinicopathological examination was carried out on eight adult patients with alpha-1-antitrypsin (ATT) deficiency. Phenotyping confirmed five patients with PiMZ, two patients with PiZ-, and one patient with PiZZ. Cirrhosis was found in six of the patients, four of whom had a history of excessive ethanol consumption. Hepatitis B surface antigen was positive in two patients with cirrhosis. Dysplastic change was present in four patients, although no neoplasia in the liver was found in all patients. All patients had periodic acid-Schiff positive and diastase resistant inclusions of hepatocytes, which were identified as ATT by indirect immunoperoxidase stain. The possibility of the combined effects of ATT inclusions and such harmful stimuli such as alcohol or viral hepatitis infection may render the hepatocytes more susceptible to damage, and may contribute to development of cirrhosis.
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PMID:Alpha-1-antitrypsin deficiency in adults. 349 Jul 36

One hundred seventy orthotopic liver transplants were performed under conventional immunosuppression with azathioprine and steroids with 1- and 5-year survivals of 32.9 per cent and 20.0 per cent, respectively. Since the introduction of cyclosporine-prednisone therapy in March 1980, 313 primary orthotopic liver transplants have been performed. Actuarial survivals at 1 and 5 years have improved to 69.7 per cent and 62.8 per cent, respectively. Biliary atresia is now the most common indication for liver replacement. In adults, primary biliary cirrhosis and sclerosing cholangitis have become more common indications for transplantation, and alcoholic cirrhosis and primary liver malignancy as indications have declined. Early enthusiasm for liver transplantation in patients with hepatic cancer has been tempered by the finding that recurrence is both common and rapid. An increasing number of patients with inborn errors of metabolism originating in the liver are receiving transplants, including patients with Wilson's disease, tyrosinemia, alpha-1-antitrypsin deficiency, glycogen storage disease, familial hypercholesterolemia, and hemochromatosis. Survival in this group of patients has been excellent (74.4 per cent at 1 and 5 years). A hemophiliac who received a transplant for postnecrotic cirrhosis has survived and may have been cured of his hemophilia. About 20 per cent of patients require retransplantation for rejection, technical failure, or primary graft failure. Only four of the patients receiving retransplants under conventional immunosuppression survived beyond 6 months, and all died within 14 months of retransplantation. Sixty-eight patients have received retransplants under cyclosporine-prednisone. Thirty-one patients are surviving, all for at least 1 year. Six of the twelve patients requiring a third transplant are alive 2 to 3 years after the primary operation. An aggressive approach to retransplantation in the patient with a failed graft is justified.
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PMID:Indications for liver transplantation in the cyclosporine era. 352 Aug 95

The weights of the spleens of series of patients with various disorders of children dating from birth or early infancy and causing splenomegaly, with or without cirrhosis of the liver, were analyzed. The linear regression equation for spleen weight versus age in months for each disease was derived, and the rate constants from these equations were adjusted for the age range of the patients in each group. The original data of Coppoletta and Wolbach were used for normal values. The rates of splenic growth of appropriate entities for which the regression equation could be computed fell into three groups, with adjusted rate constants (growth of spleen in grams per month) of 6.53-6.95 (biliary atresia, thalassemia, and cirrhosis following neonatal hepatitis), 2.30-2.62 (cirrhosis of alpha-1-antitrypsin deficiency, infantile polycystic disease, and spherocytosis), and 1.06-1.11 (cystic fibrosis and idiopathic thrombocytopenic purpura). These classes of splenic growth rates are approximately 10, 3.7, and 1.6 times the normal growth rate (0.67 g/mo). Rate constants could not be computed for the categories cirrhosis following viral hepatitis and hemolytic anemia other than spherocytosis and sickle cell anemia, and the numbers of patients with splenic vein obstruction, cirrhosis with the cholestatic syndrome of parenteral alimentation, hypoplastic anemia with hemosiderosis, tyrosinemia, Byler's disease, congenital hepatic fibrosis, and Wilson's disease were too few for analysis. The significance of the finding of classes or "quantum groups" of splenic growth rates in disorders of children, dating from birth or early infancy and causing splenomegaly, is uncertain. Comparable data on adequate series of patients with other appropriate disorders will be necessary.
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PMID:Splenic growth rates in cirrhotic and other splenomegalic diseases of childhood. 384 62

Liver transplantation has become a clinical therapeutic modality for end stage liver diseases. The results achieved in children are better than in adults: in T.E. Starzl unique experience in Pittsburgh, USA, the survival rate at one and four years are 75 and 70% respectively. Complete rehabilitation of these children can nowadays be expected. Between March 1984 and June 1985, 8 children received an orthotopic liver transplantation at the University of Louvain Medical School in Brussels, Belgium; one child received two transplantations after acute and irreversible rejection of a first ABO incompatible graft. The indications were biliary atresia in five (polysplenia in one), biliary hypoplasia in one, alpha-1-antitrypsine deficiency in one and Crigler-Najjar syndrome type I in one. The age of the patients at the time of liver replacement was 12 to 18 months in four, 8 to 13 years in four. Six patients are alive after 17, 14, 12, 10, 3 and 3 months; the two youngest children deceased during the first postoperative month. The Kaplan-Meyer one year survival rate is 75%; all surviving children are in excellent clinical condition with a normal liver function. The 9 transplanted livers were harvested from multiorgan cerebral death donors with the exception of one neonate whose liver alone was removed; 4 were retrieved locally, the five others were offered by foreign hospitals through the organ procurement agencies (Eurotransplant, France-Transplant, U.K. Transplant). Due to appropriate logistics with air flight transportation of the harvesting team when indicated, the total ischaemia time was kept below 6 hours in every case. Two small children underwent a left lobe orthotopic transplantation after ex vivo right trisegmentectomy of the liver retrieved from an older donor with one long term survival. The indications for liver transplantation in children are end-stage liver diseases consisting of a) cholestatic diseases among which the most frequent is biliary atresia after unsuccessful Kasai procedure followed by familial cholestasis (Byler syndrome) and the paucity of the intrahepatic bile ducts of the syndromatic (Alagille syndrome) or non syndromatic type. b) the metabolic diseases resulting either in cirrhosis with liver failure (alpha-1-antitrypsin deficiency, Wilson disease, glycogen storage disease type I and IV, protoporphyria) or in extrahepatic complications of enzymatic deficiency of an otherwise normally functioning liver (Crigler-Najjar syndrome type I, familial hypercholesterolemia and perhaps oxalosis). c) the hepatocellular diseases either chronic with cirrhosis of various origin or acute, eg. toxic hepatitis.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[Liver transplantation in children]. 391 72

We report a case of Niemann-Pick disease (NPD) with accumulation of sphingomyelin in reticuloendothelial system (RES), hepatocellular giant cell transformation (GCT), cirrhosis, and multiple hepatocellular adenomata in a 19-month-old girl. GCT, but no NP-cells, were seen at age 3 months by biopsy. Cirrhosis and hepatocellular adenomata were demonstrated in the liver at 19 months of age. Cytoplasmic, probably locally synthesized, globules of alpha-1-antitrypsin (A-1-AT) were accumulated in the hepatocellular adenomata. A-1-AT and alpha-fetoprotein (AFP) were present in the serum.
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PMID:Niemann-Pick disease associated with liver disorders. 408 8

The characteristics of emphysema and cirrhosis in Pi ZZ (alpha-1-antitrypsin deficiency) and SZ patients are reviewed. The clinical and laboratory data have been incorporated into a simple hypothesis on the development of these diseases. The PiZ protein can not be secreted normally from the liver cells. The accumulation of alpha-1-antitrypsin in the liver may result in cirrhosis, and the deficiency in serum to emphysema.
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PMID:Alpha-1-antitrypsin deficiency in pulmonary and liver degeneration. 454 76

Sixteen children (aged between 1 month and 20 years) with alpha-1-antitrypsin deficiency (PiZ) were investigated by liver biopsy on one or more occasions. Eight patients had suffered from neonatal cholestasis, and two of them were investigated during the cholestatic period as well. The clinical status and liver function tests were compared with the light and electron microscopical findings. According to the light microscopical analyses at the latest investigation, the cholestatic and noncholestatic patients were classified as healthy, fibrotic or cirrhotic cases. All livers displayed periodic acid-Schiff positive, diastase-resistant globules in some but not all periportally located hepatocytes. By electron microscopy accumulation of retained secretory material was found in all PiZ patients. This accumulation was most conspicuous in the smooth endoplasmic reticulum of hepatocytes. alpha-1-antitrypsin deficiency seems to affect some, but not all hepatocytes. In the affected cells disappearance or hypotrophy of the Golgi complex could be observed. The intracellular transport of very low density lipoproteins (VLDL) was apparently not affected. The migration block in alpha-1-antitrypsin deficiency seems to occur before transportation to the Golgi complex. The extent of the involvement was not strictly age-dependent. There was no ultrastructural evidence of subclinical cholestasis as a possible triggering factor in the development of cirrhosis.
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PMID:Alpha-1-antitrypsin deficiency and juvenile liver disease. Ultrastructural observations compared with light microscopy and routine liver tests. 613 91

alpha-1-Antitrypsin deficiency due to homozygous Pi ZZ state is reported to be associated with cirrhosis and hepatocellular carcinoma (HCC); however, the role of heterozygous Pi Z state is not definitely known. In order to investigate the possible association, we studied the phenotypic distribution of alpha-1-antitrypsin variants (Pi) in 124 cases of HCC. Two thousand ten normal American Red Cross blood donors were studied as controls. Twelve patients with HCC had aberrant phenotypes, an incidence of 9.67% as compared to 8.36% among normal controls. Nine of 12 patients with HCC with aberrant Pi type had cirrhosis; 5 of the 9 had cirrhosis due to hepatitis B virus; 2 of the 9 had alcoholic liver disease with cirrhosis, and 2 had cryptogenic cirrhosis. The three patients with HCC arising in noncirrhotic livers who also had aberrant Pi phenotypes, had a relatively rare variety of HCC called fibrolamellar type. Z gene was found in five patients: all five were MZ. Incidence of MZ phenotype in HCC was similar to that of the normal control population (4.0% in HCC and 2.9% in the controls). However, 3 of 5 MZ were associated with fibrolamellar HCC. Another aberrant phenotype found among the patients with HCC was MF (fast moving) which occurred with an incidence of 2.41% as compared to none in the control group. In conclusion, we found no significant increase in the incidence of Z gene among 124 patients with HCC as compared to the normal population.
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PMID:alpha-1-Antitrypsin phenotypes in hepatocellular carcinoma. 617 95

To assess whether hepatic peptidyl prolyl hydroxylase (PPH) activity could serve as a practical quantitative indicator of hepatic fibrosis or aid in the categorization, diagnosis or prognosis of hepatobiliary disorders in infancy and childhood, the activity of this enzyme has been determined prospectively by a tritium release method in 97 biopsies from 94 infants and children with the following conditions: acute hepatitis of infancy, 10 patients; extrahepatic biliary atresia, 13; previous hepatitis of infancy, 8; alpha-1-antitrypsin deficiency, 6; chronic active hepatitis, 17; chronic persistent hepatitis, 5; glycogen storage disease, 5; and 25 patients with a miscellanea of other liver disorders. PPH activity was considered in relation to diagnosis, biochemical and histological abnormality and subsequent prognosis over a 4-year period. Five liver biopsies which showed no histological abnormality were considered as "controls" having PPH values of 0.72 +/- 0.47 (mean +/- S.D.). PPH activity was significantly elevated in acute hepatitis of infancy, 9 of the 10 infants having PPH greater than 1.66 units (i.e., mean +/- 2 S.D. of the "control" value). Nine infants (70%) with extrahepatic biliary atresia also had PPH activity above this value, as did two with alpha-1-antitrypsin deficiency and 12 patients all in different diagnostic categories. PPH activity did not correlate with hepatic fibrosis as indicated by hepatic hydroxyproline concentration or by histological assessment, or with biochemical tests of liver function within any diagnostic group or in the series as a whole. PPH activity was similar in biopsies with and without histological features of cirrhosis.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Hepatic peptidyl prolyl hydroxylase activity and liver fibrosis--a prospective study of 94 infants and children with hepatobiliary disorders. 632 86


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