Centro Fibrosi Cistica, Clinica Pediatrica, IRCCS “Burlo Garofolo”, Trieste
Key words: Alpha 1-antitrypsin deficiency (AATD), Neonatal cholestasis, Chronic lung disease
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 far cannot be recommended due to lack of effective treatment.
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