title: HLA in juvenile liver disease with alpha-one-antitrypsin deficiency.
abstract: The possible role of HLA phenotypes was investigated in the development of juvenile liver disease in persons with alpha 1-antitrypsin deficiency. Seventeen patients were investigated between the ages of 3-25 years. All of them had alpha 1-antitrypsin phenotype PiZ. After a longer follow-up a clinical diagnosis was established by the help of physical status, biochemical liver function tests and--in the cases of suspected liver disease--liver biopsy. The clinical course was correlated to the HLA phenotypes of the patients. In 2 cases all first degree relatives were investigated, as well. Our studies on the 17 unrelated patients indicated no correlation between HLA and juvenile liver disease in alpha 1-antitrypsin deficiency. The family studies confirmed these findings.
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D008103:Liver Cirrhosis / Q000235:genetics / Q000276:immunology*; D008297:Male; D010641:Phenotype; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D006680:HLA Antigens