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 phenotypic distribution of alpha-1-antitrypsin variants has been studied in 101 patients with cirrhosis and in 50 with cirrhosis plus hepatoma. 504 healthy Greeks served as controls. The ZZ and MZ phenotypes were found only once in the group of cirrhosis. The very low PiZ gene frequency suggests that the association of PiZ gene with cirrhosis is fortuitous. The FM phenotype has been observed in 14% of patients with hepatoma arised on cirrhosis and this incidence differed significantly between the two groups of patients and the controls. It is possible that cirrhotic patients phenotypically FM develop for as yet unknown reasons hepatoma in high percentage.
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PMID:Alpha 1-antitrypsin phenotypes in cirrhosis and hepatoma. 17 60

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

Five patients with alpha-1-antitrypsin deficiency (PiZ) are reported. All these patients presented with the neonatal hepatitis syndrome and two fo them had developed cirrhosis at ages 5 and 8 years, respectively. Three patients, ages 1, 9 and 21 years, are asymptomatic. The oldest patient, 21 years of age, has only mild histologic changes in the liver. The prognosis for patients with alpha-1 antitrypsin deficiency (PiZ) presenting with neonatal hepatitis is not necessarily grave, a finding that differs from previous observations.
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PMID:Neonatal hepatitis and alpha-1-antitrypsin deficiency. The prognosis in five patients. 30 Apr 52

Prealbumin (PA) measurements were made by electrophoretic and radial immunodiffusion techniques in three alpha-1-antitrypsin deficient Pi-D) serum samples. The deficiency was characterized as phenotype ZZ (homozygous). In two out of three serums PA was undetectable, as revealed by the absence of radiothyroxine distribution in the PA area, whereas quantitative estimates of PA by radial immunodiffusion showed very low levels (2--7 mg/100 ml) thus corroborating electrophoretic observations; low PA binding of T4 tracer was noted in another Pi-D serum. The total protein and laboratory thyroid function (thyroxine, triiodothyronine, and free thyroxine index concentration) measurements were normal, and the decrease in PA could not be explained on the basis of surgery, protein malnutrition, or cirrhosis. These and other observations described in this preliminary communication have served to raise the possibility of severe prealbumin deficiency being associated with alpha-1-antitrypsin deficiency, while the presence of low-but-not-absent PA in another Pi-D case might also suggest subgroup classification of the phenotype ZZ based on degrees of PA deficiency.
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PMID:Association of prealbumin deficiency with alpha-1-antitrypsin deficiency. 31 60

Two groups of patients were selected according to their plasma levels of alpha-1-antitrypsin deficiency from among 58 patients with a chronic bronchopathy. Group I had normal plasma levels of alpha-1-antytrypsin; group II had plasma values lower than normal. The pathologic conditions associated with chronic bronchopathies were studied in both groups and so were the gasometric characteristics of the same. Chronic bronchopathies in subjects belonging to group II showed a clear tendency to present normal levels of pCO2 and hydrogen ions possibly related to a greater bronchial impairment in these patients. Independently of the genetic characteristics of plasma alpha-1-antitrypsin deficiency, its general levels are the real indication of its possible etiopathogenic action. Patients with recurrent plasma alpha-1-antitrypsin deficiency, its general levels are the real indication of its possible etiopathogenic action. Patients with recurrent plasma alpha-1-antitrypsin deficiency are more susceptible to bacterial infections, liver cirrhosis, diabetes, and allergic states. All this would be related to the protective effect of this protein fraction, and its reduction according to the most recognized theories would decrease the resistance of hepatic and pancreatic cells.
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PMID:[Diseases associated with chronic bronchopathies and plasma alpha-1-antitrypsin deficiency (author's transl)]. 31 92

Eight cases of liver disease associated with alpha-1-antitrypsin deficiency are described. Six of the cases, including the only childhood case, showed no evidence of lung disease. An occult but variable clinical course is defined in this disorder. A spectrum in the severity of tissue change was noted, and in some instances, extensive liver disease was correlated with relatively minor derangement in liver function. While this form of liver disease is uncommon, it should be included in the differential diagnosis of adult liver disease. Screening for alpha-1-antitrypsin globules in periodic acid-Schiff stained liver tissue sections should be considered in certain cases of cryptogenic liver disease in adults, particularly when advanced disease presents suddenly, where micronodular (portal) cirrhosis is unrelated to excessive alcohol use, or where tissue changes exceed those anticipated from serum biochemical abnormalities. In most of these cases, tissue findings from liver biopsy or autopsy, rather than clinical suspicion, led to the diagnosis. The availability of a simple and reliable immunoperoxidase technique, applicable to routinely processed tissue samples, allowed for rapid and specific diagnosis in all cases. This immunocytochemical method has proven its usefulness in the prospective and retrospective tissue diagnosis of alpha-1-antitrypsin deficiency and associated liver disease.
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PMID:Immunocytochemical diagnosis of alpha-1-antitrypsin deficiency. 35 32

Extremely deficient levels of alpha-1-antitrypsin (ALPHA1AT) predispose such deficient individuals to the development of emphysema and cirrhosis. Protease inhibitor (Pi) typing has clarified that the inherited deficiency is codominant. A glycoprotein with antigenic characteristics of alpha1AT is found in the endoplasmic reticulum of the hepatocytes of individuals with PiZ phenotype. No therapy is available except liver transplantation. Although biochemical advances in defining the nature of alpha1AT deficiency are progressing, the pathogenesis of the liver disease remains an enigma.
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PMID:The current status of alpha-1-antityrpsin, a protease inhibitor, in gastrointestinal disease. 76 97

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

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

The authors report a case of neonatal hepatitis with alpha-1-antitrypsin occuring in a child of ZZ phenotype. The anatomopathological study carried out on two liver biopsies showed changes of common cholestatic hepatitis developing into cirrhosis, as well as intrahepatocytary globulins. Moreover, these globulins, P.A.S. positive after treatment by alphaamylase, fix an antialpha-1-antitrypsine antiserum. Ultrastructural analysis shows them to be masses of amorphous material, feebly osmiophilic, outlined by a unitary membrane the moniliform aspect of which recalls the ergastoplasmic membrane. These findings are identical to those already made in cases of cirrhogenous neonatal hepatitis by alpha-1-antitrypsine deficit reported in the literature. They point out the irreversibility of the affection which, after a stage of cholestatic hepatitis with or without inflammatory portal fibrosis, develops into cirrhosis. At this stage cholestasis has regressed or disappeared whereas portal sclerosis, often infiltrated with free elements, surrounds hepatic lobules and biliary neocanaliculi. But the globulins are still present and appear to be the specific feature of this deficit. By their ultrastructural and immuno-histochemical features, these globulins would represent a form of accumulation of alpha-1-antitrypsin in the hepatocytes which normally carry out the synthesis of this antienzyme. Accumulation in the hepatocytes proves excretory disturbance of hypothetical mechanism: structural anomaly, changes in the permeability of the membrane. Its role in the occurrence of hepatitis or cirrhosis lesions is still to be demonstrated but one may think that it consists in absence of inhibition of the enzymatic factors discharged during agressions.
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PMID:[Neonatal hepatitis with alpha-1-antitrypsin deficit. Apropos of a personal case]. 108 58


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