Alpha-1-antitrypsin deficiency in children: liver disease is not reflected by low serum levels of alpha-1-antitrypsin - a study on 48 pediatric patients.

Abstract

Our data clearly show that in the diagnostic workup of neonatal cholestasis measurement of total serum alpha1-AT does not exclude liver disease due to abnormal alpha1-AT variants. We suggest analysis of alpha1-AT-phenotype by isoelectric focussing in patients with unknown liver disease. Heterozygous or rare variant types might remain undiagnosed by measuring total alpha1-AT only.