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Srpski arhiv za celokupno lekarstvo
2014, vol. 142, br. 9-10, str. 547-550
jezik rada: engleski
vrsta rada: originalan članak
doi:10.2298/SARH1410547R


Nedostatak alfa-1 antitripsina kod dece - kliničke odlike i dijagnostika
aSchool of Medicine, Belgrade + University Children's Hospital, Belgrade
bUniverzitet u Beogradu, Medicinski fakultet, Univerzitetska dečija klinika
cUniverzitet u Beogradu, Farmaceutski fakultet
dUniverzitet u Beogradu, Medicinski fakultet, Klinički centar Srbije

e-adresa: n.radlovic@beotel.net

Sažetak

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 (<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.

Ključne reči

deficit alfa-1 antitripsina; odojče; kliničke manifestacije

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