@article{
author = "Radlović, Nedeljko and Leković, Zoran and Radlović, Vladimir and Simić, Dušica and Topić, Aleksandra and Ristić, Dragana and Dučić, Siniša and Baletić, Anđelo",
year = "2014",
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 ( lt 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). 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., Uvod Nedostatak alfa-1 antitripsina (AATD) je relativno redak i klinički veoma heterogen autozomno recesivni poremećaj. Cilj rada Cilj rada je bio da se prikažu kliničke odlike AATD u prvim mesecima po rođenju, kao i značaj testiranja braće i sestara na ovaj poremećaj. Metode rada Ispitano je osmoro dece (četiri dečaka i četiri devojčice) uzrasta od mesec dana do 63 meseca (prosečno 14,81±23,96 meseci) sa AATD, koji je dokazan na osnovu niske vrednosti alfa- 1 antitripsina u serumu i patološkog fenotipa. Rezultati Kod šestoro dece (tri dečaka i tri devojčice) uzrasta od mesec dana do četiri i po meseca (prosečno 2,25±1,37 meseci) ispoljio se holestazni sindrom, dok su dva deteta (troipogodišnja devojčica i dečak uzrasta od 5,25 godina) bila bez simptoma i kliničko- laboratorijskih znakova AATD, ali je bolest otkrivena u sklopu porodičnog testiranja. Nivo alfa- 1 antitripsina u serumu bio je 0,30-0,66 g/l (prosečno 0,37±0,12 g/l), pri čemu kod sedmoro dece sa ZZ fenotipom 0,30-0,39 g/l (prosečno 0,33±0,04 g/l), a kod dečaka sa FZ fenotipom, otkrivenog porodičnim skriningom, 0,66 g/l. U grupi bolesnika sa holestaznim sindromom (nivo GGT u serumu bio je u proseku 444,80±203,15 IU/l; raspon 201-676 IU/l), kod tri deteta je utvrđena blaga do umerena hepatomegalija, kod jednog deteta je uočen zastoj u longitudinalnom rastu ( lt P3; -10,50%), dok je kod dvoje dece zabeležen ikterus sa konjugovanom hiperbilirubinemijom (92 i 109 μmol/l) i produženim parcijalnim vremenom (14,8 i 17 s). Kod sve dece s holestaznim sindromom utvrđena je i hipertransaminazemija s vrednostima ALT 80,83±33 IU/l (raspon 37-124 IU/l) i AST 116,67±62,82 IU/l (raspon 58-230 IU/l). Zaključak Holestazni sindrom je osnovna manifestacija AATD u prvim mesecima po rođenju deteta, dok testiranje braće i sestara obolelih omogućava rano otkrivanje i odgovarajuće lečenje supkliničkih oblika bolesti.",
publisher = "Srpsko lekarsko društvo, Beograd",
journal = "Srpski arhiv za celokupno lekarstvo",
title = "Alpha-1-antitrypsin deficiency in children: Clinical characteristics and diagnosis, Nedostatak alfa-1 antitripsina kod dece - kliničke odlike i dijagnostika",
volume = "142",
number = "9-10",
pages = "547-550",
doi = "10.2298/SARH1410547R"
}
