Hereditarna hemokromatoza u pedijatrijskoj praksi
DOI:
https://doi.org/10.13112/pc.975Ključne riječi:
hereditarna hemokromatoza, željezo, feritin, djecaSažetak
Hereditarna hemokromatoza je kliničko-patološki sindrom koji karakterizira prekomjerno nakupljanje željeza u parenhimnim organima s posljedičnim oštećenjem zahvaćenih organa. Cilj rada je ukazati na znakove koji u rutinskoj pedijatrijskoj praksi trebaju pobuditi sumnju na hemokromatozu. Prikazano je troje djece koje je zbog povišenih vrijednosti serumskoga željeza i zasićenosti transferina upućeno na hematološku obradu. Genetskim testiranjem je u
svih ispitanika dokazana homozigotna C282Y varijanta HFE gena kao potvrda dijagnoze. U praćenje i liječenje je uključen multidisciplinarni tim. Zaključak: Pravovremeno postavljanje dijagnoze hereditarne hemokromatoze u asimptomatskih bolesnika ključno je za rano započinjanje terapije i prevenciju ireverzibilnih oštećenja organa.
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Autorska prava (c) 2025 Jelena Roganović, Izabela Kranjčec, Lea Šarić
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