Alpha-1-antitrypsin protease inhibitor SZ phenotype and liver cirrhosis.
In the light of recent findings concerning the importance of intermediate alpha 1-antitrypsin deficiency in the development of chronic liver disease and of hepatocellular carcinoma, we report the case of a 56-year-old woman affected by cirrhosis with significant features of liver cell dysplasia associated with intermediate alpha 1-antitrypsin deficiency (protease inhibitor SZ phenotype). In our paper we emphasize the importance of a precocious diagnosis and identification of individuals carrying the Z allele, also heterozygous.
Coli
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A
Istituto di Anatomia Patologica, Università Cattolica del Sacro Cuore, Roma, Italia.
Bigotti
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G
D005260:Female; D006801:Humans; D008103:Liver Cirrhosis / Q000235:genetics* / Q000473:pathology / Q000517:prevention & control; D008875:Middle Aged; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin