Il deficit di α1-antitripsina in età pediatrica

Translated title of the contribution: Alpha 1-antitrypsin deficiency in childhood

Luisella Giglio, Irene Berti, Chiara Trevisiol

Research output: Contribution to journalArticlepeer-review

Abstract

Alpha 1-antitrypsin deficiency (AATD) is an autosomal recessive disease, with more than 70 genetic variants, and a frequency which varies from 1:1000 to 1:5000, depending on genetic epidemiology and screening methods. The AATD involves primarily the liver, causing about 15% of cases of neonatal cholestasis and, in 1 out of 35 affected newborns, the onset of hemorrhagic disease. Cirrhosis may develop in a few cases as a consequence of early liver involvment. Liver transplantation is indicated for severe cases. The lung is usually involved only in adult age with late development of chronic lung disease. Conditions that should lead to investigation of a possible AATD are listed and implications for counselling and antenatal diagnosis of confirmed cases are discussed. Screening of AADT has been proposed but so for cannot be recommended due to lack of effective treatment.

Translated title of the contributionAlpha 1-antitrypsin deficiency in childhood
Original languageItalian
Pages (from-to)155-161
Number of pages7
JournalMedico e Bambino
Volume22
Issue number3
Publication statusPublished - Mar 31 2003

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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