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Deutsch, J; Becker, H; Dubs, R; Mutz, I; Paschke, E; Schober, P; Maurer, G; Fueger, GF.
Liver diseases in children and their relatives with homozygous and heterozygous alpha 1-antitrypsin deficiency
WIEN KLIN WOCHENSCHR. 1987; 99: 84-91.
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Leading authors Med Uni Graz: Deutsch Johann
Co-authors Med Uni Graz: Paschke Eduard; Schober Peter
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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.
Find related publications in this database (using NLM MeSH Indexing): Adolescent -; Bile Ducts, Intrahepatic - abnormalities; Child - abnormalities; Child, Preschool - abnormalities; English Abstract - abnormalities; Female - abnormalities; Hepatitis - genetics; Heterozygote - genetics; Homozygote - genetics; Humans - genetics; Infant - genetics; Infant, Newborn - genetics; Liver Cirrhosis - genetics; Liver Diseases - genetics; Liver Function Tests - genetics; Male - genetics; Pedigree - genetics; Phenotype - genetics; alpha 1-Antitrypsin Deficiency - genetics