Appropriateness of newborn screening for α1-antitrypsin deficiency.

ABSTRACT:

Objective

The Alpha-1 Foundation convened a workshop to consider the appropriateness of newborn screening for α-1-antitrypsin (AAT) deficiency.

Methods

A review of natural history and technical data was conducted.

Results

Homozygous ZZ AAT deficiency is a common genetic disease occurring in 1 in 2000 to 3500 births; however, it is underrecognized and most patients are undiagnosed. AAT deficiency can cause chronic liver disease, cirrhosis, and liver failure in children and adults, and lung disease in adults. The clinical course is highly variable. Some neonates present with cholestatic hepatitis and some children require liver transplantation, but many patients remain well into adulthood. Some adults develop emphysema. There is no treatment for AAT liver disease, other

SUBMITTER: Teckman J 

PROVIDER: S-EPMC3901803 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature