Alpha-1-antitrypsin deficiency: rare cause of adult cirrhosis--a case report.
Alpha-1-antitrypsin is a glycoprotein which inactivates proteolytic enzymes, especially neutrophil elastase. Infants deficient in this enzyme commonly develop neonatal hepatitis. In adults, the deficiency typically results in emphysema. Only rarely will an adult manifest liver disease. We present a case of adult liver cirrhosis due to Alpha-1-antitrypsin deficiency in a 63-year-old man. Manifestations of alpha-1-antitrypsin deficiency and liver disease are discussed.
Tucker
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LE
Division of Gastroenterology, St. John's Mercy Hospital, Washington, Missouri 63090.
Rawson
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PG
D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005808:Genes, Recessive; D006801:Humans; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000235:genetics* / Q000473:pathology; D008111:Liver Function Tests; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin