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)

Pi (protease inhibitor) genotype was determined in 394 healthy blood-donors, 132 adult patients with alcoholic cirrhosis, and 37 adult patients with cryptogenic cirrhosis. The frequency of the heterozygous genotype with a single allele Pi Z (heterozygous alpha 1-antitrypsin deficiency) was not different in blood-donors and in patients with cirrhosis. This finding suggests that the association of this heterozygous genotype with cirrhosis is not causal but fortuitous and that this heterozygous genotype does not increase susceptibility to cirrhosis due to other causes, in particular alcoholism.
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PMID:Heterozygous alpha 1-antitrypsin deficiency and cirrhosis in adults, a fortuitous association. 4 89

Two pictures of alpha 1-antitrypsin deficiency, one associated with alpha 2-macroglobulin deficiency and one isolated case of the latter deficiency have been observed in three patients suffering from cirrhosis of the liver and/or hepatoma. On the basis of these cases, the literature on the subject is reviewed. The unusually high incidence of such anti-enzymatic deficiencies (three cases in the first eleven patients studied) in severe liver pathology, calls for a reassessment of such research and suggests that these tests should be carried out on a routine basis in cases of cryptogenetic cirrhosis and probably for long-term prognosis in cases of viral hepatitis.
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PMID:[Role of alpha 1-antitrypsin and alpha-2 macroglobulin in hepatopathies]. 8 75

Geographic area, age and sex influence the epidemiology of hepatoma. Aetiological factors are aflatoxins, sex hormones, thorotrast, alpha 1-antitrypsin deficiency, immunosuppression, vinylchloride, parasites, cirrhosis of the liver, and the hepatitis-B virus. Early diagnosis of the tumour is possible using alpha 1-fetoprotein estimations and modern morphological methods, particularly scintiscanning. Tumour resection is therapeutically desirable, while selective chemotherapy remains palliative and liver transplantation failed to prolong survival.
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PMID:[Primary liver cell carcinoma, aetiology and clinical picture (author's transl)]. 9 Dec 71

It is well known that incidence of chronic obstructive lung disease in adult patients with alpha 1-antitrypsin deficiency (ATD) is high. Adult carriers of this genetic trait with cirrhosis of the liver, and also with fibrosis of the liver and hepatoma, have been reported. A causal relationship between ATD and liver lesions has been suspected. In most cases liver disease has been recognized at post morten, - in a few cases, however, intra vitam, when severe symptoms of the liver disease had become apparent. The case of a 59 year-old patient is reported with PIZZ-homozygous ATD, moderate pulmonary emphysema and with marked portal fibrosis and focal transition in cirrhosis of the liver without any sequelae. The clinical course has been rather benign so far.
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PMID:[Alpha 1-antitrypsin deficiency, liver cirrhosis and pulmonary emphysema (author's transl)]. 16 Apr 81

The cytoplasmic bodies in hepatocytes thought to indicate possession of the Z allele for alpha 1-antitrypsin deficiency were found in necropsy in 10 of 64 adults with cirrhosis, four of nine with hepatic fibrosis, and four of 15 with hepatocellular carcinoma. They were also found in six of 76 adults with severe panacinar emphysema, and in four of a control series of 110 adults with neither emphysema nor liver disease. The association of the bodies with each of the three liver diseases was statistically significant, but the association of the bodies with emphysema was not. It is considered probable that heterozygous (PiMZ) alpha 1-antitrypsin deficiency is associated with an increased incidence of cirrhosis, hepatic fibrosis, and hepatocellular carcinoma.
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PMID:Alpha-1-antitrypsin bodies in the liver. 19 72

Among 200,000 infants screened for alpha 1-antitrypsin (alpha 1-AT) deficiency, 125 Pi Z, 48 Pi Z, 1Pi S-, and 2 Pi Z- children were followed up prospectively. Eleven percent of the Pi Z infants had neonatal cholestasis, and at 2 years of age three of them had cirrhosis. About 50% of the asymptomatic Pi Z and Pi Z- subjects occasionally had serum alanine aminotransferase (ALAT) levels above normal, and in 15% of them the levels were probably permanently increased during the first two years of life. Two previously healthy Pi Z children had transient symptoms of liver disease at age 2 years in connection with severe infections. The Pi SZ children had no significant clinical liver disease and only two had abnormal serum ALAT levels. Among Pi Z children up to 2 years of age the following diseases were also encountered: eight had recurrent bronchitis with wheezing, two had persistant cough (both had cirrhosis), one had severe pneumonia, one was mentally retarded, three had urinary tract infections, six had pronounced eczema, one had allergic shock, and three had congenital malformations. Among the Pi SZ children one had recurrent bronchitis, one had eczema, and one had juvenile rheumatoid arthritis. Three children, two Pi Z and one Pi SZ, have died. The Pi Z- and Pi S- subjects were healthy. In conclusion a variety of significant symptoms were observed in about 30% of the Pi Z children compared with 6% of the Pi SZ children during the first two years of life.
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PMID:alpha 1-antitrypsin deficiency in early childhood. 30 15

alpha 1-antitrypsin (alpha 1AT) of the Pi type Z is associated with two diseases: pulmonary emphysema and cirrhosis of the liver. We report 23 families with both parents heterozygous for the PiZ allele, characterized from our own analysis and from world literature sources. All families were identified through members expressing disease. From the extended pedigrees, 18 backcross families (parents with Pi types MM and MZ) were identified. Analysis of the backcross families reveals a significant increase in Pi MZ offspring (.73) among families where the male is heterozygous. The distortion is not detected among families where the female is heterozygous. Among the matings where both parents are heterozygous, we found 0.43 Pi ZZ from families where one or more members expressed hepatic cirrhosis, and 0.40 Pi ZZ for total families studied. This contrasts to the 0.25 Pi ZZ expected, but is consistent with the distortion observed in backcross matings. The implications of various statistical approaches are discussed, and we point out why our findings differ from previous reports. We suggest a possible biological explanation residing in the fertilization process.
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PMID:Segregation distortion of the alpha 1-antitrypsin Pi Z allele. 31 54

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 16-year-old girl with advanced cirrhosis and severe alpha 1-antitrypsin deficiency of the homozygous Pi ZZ phenotype was treated by orthotopic liver transplantation. After replacement of the liver with a homograft from a donor with the normal Pi MM phenotype, the alpha 1-antitrypsin concentration in the recipient's serum rose to normal; it had the Pi MM phenotype. Two and a third years later, chronic rejection necessitated retransplantation. Insertion of a homograft from a heterozygous Pi MZ donor was followed by the identification of that phenotype in the recipient's serum. Neither liver graft developed the alpha 1-antitrypsin glycoprotein deposits seen with the deficiency state. These observations confirm that this hepatic-based inborn error of metabolism is metabolically cured by liver replacement.
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PMID:Liver replacement for alpha1-antitrypsin deficiency. 32 Jun 94

Three adults with alpha 1-antitrypsin deficiency are described. In two of the cases the deficiency was genetically determined (cases 1 and 2), and each demonstrated unusual features of the disease. The liver in case 1 (homozygous) showed cholangiolar hyperplasia which has been recorded only once before. Case 2 (heterozygous) had emphysema and cirrhosis, a combination not previously documented in a heterozygote, in addition to malabsorption. Case 3 represents a case of spurious alpha 1-antitrypsin deficiency with cirrhosis included to emphasize the diagnostic improtance of phenotyping in such cases.
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PMID:Adult alpha1-antitrypsin deficiency. 108 Nov


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