Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V / Osteoporoza V Otroški Dobi in Predstavitev Dveh Bolnikov Z Osteogenesis Imperfecta Tipa V

Bratanic Nina; Dzodan Bojana; Trebusak Podkrajsek Katarina; Bertok Sara; Ostanek Barbara; Marc Janja; Battelino Tadej; Avbelj Stefanija Magdalena

doi:10.1515/sjph-2015-0018

Slovenian Journal of Public Health (Mar 2015)

Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V / Osteoporoza V Otroški Dobi in Predstavitev Dveh Bolnikov Z Osteogenesis Imperfecta Tipa V

Bratanic Nina,
Dzodan Bojana,
Trebusak Podkrajsek Katarina,
Bertok Sara,
Ostanek Barbara,
Marc Janja,
Battelino Tadej,
Avbelj Stefanija Magdalena

Affiliations

Bratanic Nina: University Children’s Hospital, Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, Bohoriceva 20, 1000 Ljubljana, Slovenia
Dzodan Bojana: University Children’s Hospital, Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, Bohoriceva 20, 1000 Ljubljana, Slovenia
Trebusak Podkrajsek Katarina: University Medical Centre Ljubljana, University Children’s Hospital, Unit for Special Laboratory Diagnostics, Vrazov trg 1, 1000 Ljubljana, Slovenia
Bertok Sara: University Children’s Hospital, Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, Bohoriceva 20, 1000 Ljubljana, Slovenia
Ostanek Barbara: University of Ljubljana, Faculty of Farmacy, Askerceva 7, 1000 Ljubljana, Slovenia
Marc Janja: University of Ljubljana, Faculty of Farmacy, Askerceva 7, 1000 Ljubljana, Slovenia
Battelino Tadej: University Children’s Hospital, Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, Bohoriceva 20, 1000 Ljubljana, Slovenia
Avbelj Stefanija Magdalena: University Children’s Hospital, Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, Bohoriceva 20, 1000 Ljubljana, Slovenia

DOI: https://doi.org/10.1515/sjph-2015-0018
Journal volume & issue: Vol. 54, no. 2
pp. 119 – 125

Abstract

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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.

Published in Slovenian Journal of Public Health

ISSN: 1854-2476 (Online)
Publisher: Sciendo
Country of publisher: Poland
LCC subjects: Medicine: Public aspects of medicine
Website: https://sciendo.com/journal/SJPH

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