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

Abstract

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 (<P3; -10.50%) and two had icterus with conjugated hyperbilirubinemia (92 and 109 μmol/L) and prolonged prothrombin time (PT 14.8 and 17 sec). All children with cholestasis syndrome also had hypertransami-nasemia (ALT 80.83±33 U/L; range 37-124 U/L and AST 116.67±62.82 U/L; range 58-230 U/L).; Conclusion Cholestasis syndrome represents a basic manifestation of AATD in the first months after birth, while early testing of brothers and sisters enables early disclosure and adequate treatment of the subclinical forms of the disease. © 2014, Srpsko Lekarsko Drutsvo. All rights reserved.