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Bratanic Nina; Dzodan Bojana; Trebusak Podkrajsek Katarina; Bertok Sara; Ostanek Barbara; Marc Janja; Battelino Tadej; Avbelj Stefanija Magdalena
Zdravstveno varstvo, 03/2015, Volume: 54, Issue: 2Journal Article
Uvod. Osteogenesis imperfecta (OI) je vzročno heterogena bolezen, katere značilnost je osteoporoza v otroštvu. Pri vseh opisanih bolnikih s podtipom OI tipa V je vzrok bolezni ista mutacija c.-14C>T gena IFITM5. Kljub temu med bolniki obstaja izrazita fenotipska variabilnost v klinični sliki, toda opisan je le dober odgovor na zdravljenje z bisfosfonati.
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