Alpha-1-antitrypsin deficiency in children: Clinical characteristics and diagnosis

Introduction. Alpha-1-antitrypsin deficiency (AATD) is a relatively rare and clinically very heterogeneous autosomal recessive disorder. Objective. Presentation of clinical characteristics of AATD in the first months after birth, as well as the significance of testing brothers and sisters for its presence. Methods. Objectives of the study were analyzed on a sample of eight children (four male and four female, aged 63 months (mean14.81±23.96 months; range 1-63 months) with AATD confirmed based on its low serum value and pathological phenotype. Results. Of the total of eight patients, six manifested cholestasis syndrome (three male and three female, mean age 2.25±1.37 months; range 1-4.5 months), while two patients, a 3.5-year-old girl and a 5.25-year-old boy, were without symptoms and clinical-laboratory signs of the disease, disclosed during family testing. Serum alpha-1-antitrypsin level rated 0.30-0.66 g/L (0.37±0.12), among which seven were with ZZ phenotype 0.30-0.39 (0.33±0.04), and in a boy with FZ the phenotype was disclosed on family screening, 0.66 g/L. In the group of patients with cholestasis syndrome (serum GTT 444.80±203.15 U/L; range 201-676 U/L), three had mild to moderate hepatomegaly, one had longitudinal growth delay (