[alpha 1-Antitrypsin phenotypes in patients with chronic liver diseases]. 1983

G Pott, and M Schneider, and N van Husen, and D B von Bassewitz, and G Eberhardt, and U Gerlach

In a 25-year-old man we had observed the development of a liver cirrhosis leading to death from bleeding of oesophageal varices within two years. An alpha 1-antitrypsin defect (MZ-type) was detected post mortem both by serum analysis and by tissue examination. It is well documented that homozygote, e.g. SS- or ZZ-type, antitrypsin defects are frequently accompanied by liver fibrosis or cirrhosis. In 174 patients with alcoholic hepatitis or alcohol-induced cirrhosis we demonstrated the distribution of alpha 1-antitrypsin phenotypes using gel electrofocussing to clarify whether the heterozygote alpha 1-antitrypsin defect--which is accompanied only occasionally by a slightly reduced total concentration of the alpha 1-antitrypsin in the blood--has an increased incidence in such patients. Compared to the healthy population (MS-type 4.0%), we observed 9,8% MS-type in the described 174 patients. This simultaneous occurrence of a chronic, alcohol-induced liver disease with the genetic aberration of the alpha 1-antitrypsin phenotype pattern is too frequent to be attributed to mere chance and may be one cause of the increased incidence of chronic liver diseases within families documented by clinicians.

UI MeSH Term Description Entries
D008103 Liver Cirrhosis Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules. Cirrhosis, Liver,Fibrosis, Liver,Hepatic Cirrhosis,Liver Fibrosis,Cirrhosis, Hepatic
D008104 Liver Cirrhosis, Alcoholic FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING. Alcoholic Cirrhosis,Hepatic Cirrhosis, Alcoholic,Alcoholic Hepatic Cirrhosis,Alcoholic Liver Cirrhosis
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D005235 Fatty Liver, Alcoholic Lipid infiltration of the hepatic parenchymal cells that is due to ALCOHOL ABUSE. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of TRIGLYCERIDES accumulated. Alcoholic Fatty Liver,Alcoholic Steatohepatitis
D005260 Female Females
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

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