title: [Liver diseases in children and their relatives with homozygous and heterozygous alpha 1-antitrypsin deficiency].
abstract: Over a 6-year period 26 infants and children with homozygous (2 Z and 6 ZZ) or heterozygous alpha 1-antitrypsin deficiency (12 MZ, 6 MS) were observed prospectively and their families investigated. 7 of 8 homozygous patients had neonatal hepatitis, whereby 3 of these showed maximum transferase activities during the 5th to 9th months of life. At the age of 7 years 2 of these patients were clinically normal, but only one patient had normal transferases. One patient had cirrhosis with portal hypertension at the age of 16 years 6 months; her nephew showed hypersplenism. Family studies revealed a further 5 relatives of phenotype Z, 16 of phenotype MZ, 3 of phenotype SZ and 1 of phenotype MS; 6 of these had slightly elevated serum transferase activities. 6 patients of phenotype MZ and 2 patients of phenotype MS had neonatal hepatitis but generally with a much better prognosis than in homozygous patients. The other heterozygous patients (6 MZ and 4 MS) had a variety of additional factors determining the disease and the prognosis. Family studies showed a further 7 family members of phenotype MZ, and 2 of phenotype MS; 2 of these had slightly elevated transferase activities, 3 parents had hereditary hyperbilirubinaemia.
mesh_terms: D000293:Adolescent; D001653:Bile Ducts, Intrahepatic / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D005260:Female; D006505:Hepatitis / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008103:Liver Cirrhosis / Q000235:genetics; D008107:Liver Diseases / Q000235:genetics*; D008111:Liver Function Tests; D008297:Male; D010375:Pedigree; D010641:Phenotype; D019896:alpha 1-Antitrypsin Deficiency
vernacular_title: Lebererkrankungen bei Kindern und deren Verwandten mit homozygotem und heterozygotem Alpha-1-Antitrypsinmangel.