{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T14:12:00Z","timestamp":1761919920588,"version":"3.40.5"},"reference-count":0,"publisher":"National Library of Serbia","issue":"9-10","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Srp Arh Celok Lek","SRP ARH CELOK LEK","SRP ARK CELOK LEK","SRPSKI ARHIV CELOKUP"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>Introduction. Alpha-1-antitrypsin deficiency (AATD) is a relatively rare and\n   clinically very heterogeneous autosomal recessive disorder. Objective.\n   Presentation of clinical characteristics of AATD in the first months after\n   birth, as well as the significance of testing brothers and sisters for its\n   presence. Methods. Objectives of the study were analyzed on a sample of eight\n   children (four male and four female, aged 63 months (mean14.81?23.96 months;\n   range 1-63 months) with AATD confirmed based on its low serum value and\n   pathological phenotype. Results. Of the total of eight patients, six\n   manifested cholestasis syndrome (three male and three female, mean age\n   2.25?1.37 months; range 1-4.5 months), while two patients, a 3.5-year-old\n   girl and a 5.25-year-old boy, were without symptoms and clinical-laboratory\n   signs of the disease, disclosed during family testing. Serum\n   alpha-1-antitrypsin level rated 0.30-0.66 g\/L (0.37?0.12), among which seven\n   were with ZZ phenotype 0.30-0.39 (0.33?0.04), and in a boy with FZ the\n   phenotype was disclosed on family screening, 0.66 g\/L. In the group of\n   patients with cholestasis syndrome (serum GTT 444.80?203.15 U\/L; range\n   201-676 U\/L), three had mild to moderate hepatomegaly, one had longitudinal\n   growth delay (&lt;P3; -10.50%) and two had icterus with conjugated\n   hyperbilirubinemia (92 and 109 ?mol\/L) and prolonged prothrombin time (PT\n   14.8 and 17 sec). All children with cholestasis syndrome also had\n   hypertransaminasemia (ALT 80.83?33 U\/L; range 37-124 U\/L and AST 116.67?62.82\n   U\/L; range 58-230 U\/L). Conclusion. Cholestasis syndrome represents a basic\n   manifestation of AATD in the first months after birth, while early testing of\n   brothers and sisters enables early disclosure and adequate treatment of the\n   subclinical forms of the disease.<\/jats:p>","DOI":"10.2298\/sarh1410547r","type":"journal-article","created":{"date-parts":[[2014,11,4]],"date-time":"2014-11-04T12:40:28Z","timestamp":1415104828000},"page":"547-550","source":"Crossref","is-referenced-by-count":4,"title":["Alpha-1-antitrypsin deficiency in children: Clinical characteristics and diagnosis"],"prefix":"10.2298","volume":"142","author":[{"given":"Nedeljko","family":"Radlovic","sequence":"first","affiliation":[{"name":"School of Medicine, Belgrade + University Children\u2019s Hospital, Belgrade"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zoran","family":"Lekovic","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital, Belgrade"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vladimir","family":"Radlovic","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital, Belgrade"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8424-4704","authenticated-orcid":false,"given":"Dusica","family":"Simic","sequence":"additional","affiliation":[{"name":"School of Medicine, Belgrade + University Children\u2019s Hospital, Belgrade"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5618-752X","authenticated-orcid":false,"given":"Aleksandra","family":"Topic","sequence":"additional","affiliation":[{"name":"Faculty of Pharmacy, Belgrade"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dragana","family":"Ristic","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital, Belgrade"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sinisa","family":"Ducic","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital, Belgrade"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andjelo","family":"Baletic","sequence":"additional","affiliation":[{"name":"Clinical Center of Serbia, Belgrade"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1078","container-title":["Srpski arhiv za celokupno lekarstvo"],"original-title":[],"language":"en","deposited":{"date-parts":[[2023,5,29]],"date-time":"2023-05-29T10:35:00Z","timestamp":1685356500000},"score":1,"resource":{"primary":{"URL":"https:\/\/doiserbia.nb.rs\/Article.aspx?ID=0370-81791410547R"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":0,"journal-issue":{"issue":"9-10","published-print":{"date-parts":[[2014]]}},"URL":"https:\/\/doi.org\/10.2298\/sarh1410547r","relation":{},"ISSN":["0370-8179","2406-0895"],"issn-type":[{"type":"print","value":"0370-8179"},{"type":"electronic","value":"2406-0895"}],"subject":[],"published":{"date-parts":[[2014]]}}}