Alpha-1-Antitrypsin Deficiency: An Important Cause of Pediatric Liver Disease.

Alpha-1-antitrypsin deficiency is a commonly inherited genetic disorder, affecting up to 1 in 1,600 to 1 in 2,000 live births, most common in those of Northern European heritage. Individuals who are homozygous for the mutant Z allele (PiZZ) or are PiSZ are at risk for the development of liver disease. Although emphysema is rarely detectable before the third decade of life, liver disease can present at any age and can be evident as early as 1-2 months after birth. Four to ten percent of children with alpha-1-antitrypsin deficiency develop clinically significant liver disease during their first twenty years of life, making alpha-1-antitrypsin deficiency the most common genetic cause of pediatric liver disease and the most frequent inherited indication for liver transplantation in the pediatric population. Approximately 50 pediatric liver transplants are performed each year for alpha-1-antitrypsin deficiency.