title: Liver disease and heterozygous alpha-1-antitrypsin deficiency.
abstract: From 1985 to 1988 14,938 newborns were screened during the first days of life to determine their protease inhibitor phenotype (Pi) and 467 PiMZ and 456 PiMS were identified. Of these 101 PiMZ and 135 PiMS were followed-up and their clinical, biochemical and, in selected cases, histological data were recorded at two, five and twelve months of age. Nineteen out of 101 PiMZ infants showed hepatic dysfunction at two months, eight at five, and one at twelve months of age, respectively. In 20 of 135 PiMS infants, liver function tests were abnormal at two months, in ten at five and in none at twelve months. It appears that PiMZ and PiMS phenotypes can be associated with hepatic dysfunction during the first six months of life. The marked variability of serum levels of alpha-1-antitrypsin in heterozygotes, make Pi-typing in all cases of neonatal hepatitis advisable. This should also be done for screening purpose.
authors.affiliation: Department of Paediatric Gastroenterology, Regional Hospital, Bozen, Italy.
authors.forename: K
authors.initials: K
authors.lastname: Pittschieler
mesh_terms: D001706:Biopsy; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008107:Liver Diseases / Q000235:genetics* / Q000473:pathology; D008111:Liver Function Tests; D015997:Neonatal Screening; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000032:analysis / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin