TEŠKOĆE U POSTAVLJANJU DIJAGNOZE MARFAN SINDROMA - PRIKAZ PORODICE
DOI:
https://doi.org/10.46793/PP160426012CKljučne reči:
Marfan sindrom, nasledno oboljenjeApstrakt
Uvod. Marfan sindrom je nasledno oboljenje vezivnog tkiva. Nasleđuje se autosomno-dominantno. Incidenca je 1/10 000-20 000. Bolest je uzrokovana mutacijom gena koji kodira strukturu fibrilina i elastičnih vlakana vezivnog tkiva. Odgovoran gen se zove Fibrilin-1 ili FBN1. Mutacija gena fibrilin-1 (FBN1) je locirana na hromozomu 15 q 21.1. Kao rezultat toga su pogođeni mnogi sistemi i organi: srce, krvni sudovi, kosti, tetive, hrskavica, oči, nervni sistem, koža i pluća. Marfan sindrom se manifestuje na različite načine kod dece, te samim tim život nije svakome isti. Neka deca imaju simptome koji se moraju lečiti dok su god druge dece simptomi blagi i oni samo odlaze na kontrole jedanom godišnje. Osobe sa Marfan sindromom danas mogu živeti duže zbog rane dijagnoze i tretmana.
Prikaz porodice. U porodici Marfan sindrom imaju otac i sin. Majka i starija ćerka su zdrave. U porodici niko nije imao visok rast. Žive u selu, lošeg su materijalnog statusa. U oca je dijagnoza postavljena na pregledu za služenje vojnog roka. U sina je dijagnoza postavljena u uzrastu malog deteta. Do tada je ispitivan i lečen kao cerebralna paraliza (posledica teškog porođaja).
Zaključak. Marfan sindrom se na rođenju teško prepoznaje. Zato svakom detetu sa visokim rastom ozbiljno pristupiti radi specifične dijagnostike. Na vreme postavljena dijagnoza otkriva faktore rizika i sprečava ili odlaže teške komplikacije bolesti.
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