Srpski arhiv za celokupno lekarstvo 2014 Volume 142, Issue 9-10, Pages: 547-550
https://doi.org/10.2298/SARH1410547R
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Alpha-1-antitrypsin deficiency in children: Clinical characteristics and diagnosis
Radlović Nedeljko (School of Medicine, Belgrade + University Children’s Hospital, Belgrade)
Leković Zoran (University Children’s Hospital, Belgrade)
Radlović Vladimir (University Children’s Hospital, Belgrade)
Simić Dušica (School of Medicine, Belgrade + University Children’s Hospital, Belgrade)
Topić Aleksandra (Faculty of Pharmacy, Belgrade)
Ristić Dragana (University Children’s Hospital, Belgrade)
Dučić Siniša (University Children’s Hospital, Belgrade)
Baletić Anđelo (Clinical Center of Serbia, Belgrade)
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 (
Keywords: alpha-1-antitrypsin deficiency (AATD), infant, clinical manifestations