title: Alpha-1-antitrypsin deficiency in children: clinical characteristics and diagnosis.
abstract: BACKGROUND
  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 (mean 14.81 ± 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 hypertransaminasemia (ALT 80.83 ± 33 U/L; range 37-124 U/L and AST 116.67 ± 62.82 U/L; range 58-230 U/L).
  
  
  CONCLUSIONS
  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.
authors.forename: Nedeljko
authors.initials: N
authors.lastname: Radlović
authors.forename: Zoran
authors.initials: Z
authors.lastname: Leković
authors.forename: Vladimir
authors.initials: V
authors.lastname: Radlović
authors.forename: Dušica
authors.initials: D
authors.lastname: Simić
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Topić
authors.forename: Dragana
authors.initials: D
authors.lastname: Ristić
authors.forename: Siniša
authors.initials: S
authors.lastname: Dučić
authors.forename: Andjelo
authors.initials: A
authors.lastname: Beletić
authors.forename: Andjelo
authors.initials: A
authors.lastname: Baletić
mesh_terms: D002779:Cholestasis / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013577:Syndrome; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000175:diagnosis / Q000235:genetics
chemical_list: D000515:alpha 1-Antitrypsin