Suvremene mogućnosti liječenja osteogenesis imperfecta

master's thesis

• Title (english): Contemporary methods of treatment of osteogenesis imperfecta
• Author: Luka Boban
• Mentor: Tomislav Đapić (mentor)
• Committee member: Domagoj Delimar (predsjednik povjerenstva)
• Committee member: Ivan Bojanić (član povjerenstva)
• Committee member: Tomislav Đapić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Orthopedics); Zagreb
• Defense date and country: 2019-07-12, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Orthopedics

Abstract

Osteogenesis imperfecta nasljedna je bolest uzrokovana poremećenim stvaranjem kolagenskih lanaca. OI se nasljeđuje autosomno dominantno (te u rjeđim slučajevima i autosomno recesivno) te je karakterizirana anomalijama tkiva koje sadrže kolagen u znatnim količinama (kosti, zubi, rožnica, korijen aorte, zglobna čahura). Klinička ekspresija i znakovi bolesti ovisni su o tipu OI. Cilj liječenja OI je smanjenje incidencije prijeloma oboljelih što se nastoji postići povećanjem gustoće mineralizacije kostiju (BMD). Konzervativnim liječenjem pokušava se smanjiti resorpcija i pospješiti stvaranje koštanog tkiva korištenjem anaboličkih i antiresporptivih lijekova. Operativne metode za cilj imaju korekciju nastalih deformiteta te smanjenje rizika od novih fraktura uvođenjem alenteza. Novije metode liječenja zagovaraju modifikaciju staničnih puteva uključenih u regulaciju osteogeneze, terapiju mezenhimalnim matičnim stanicama te gensku terapiju koja djeluje na razini mutacija gena koji su odgovorni za nastalu kliničku sliku.

Abstract (english)

Osteogenesis imperfecta is a congenital disease caused by abnormal synthesis of collagen chains. OI follows an autosomal-dominant inheritance trait (and in some rarer occasions an autosomal-recesive) and it is characterised by anomalies of collagen-rich tissues (bones, teeth, sclerae, aoritc root, joint capsule). Clinical expresion and signs of the disease are defined by the type of OI. The goal of treating OI is to reduce the incidence of fractures by increasing bone mineral density (BMD). With conservative treatment, the aim is to reduce bone resorption and to increase bone formation by applying anabolic and antiresportive drugs. Operative methods are aimed at correcting existing deformities and to reduce the fracture risk by introducing various bone alenthesis into the bone shaft. Newer methods of treatment include modifications of the cellular pathways responsible for osteogenesis regulation, mesenchymal stem cell therapy and gene therapy which targets the genes
responsible for the existing clinical manifestation.

• Keywords: osteogenesis imperfecta; genetske bolesti; liječenje; operativno; konzervativno; multidisciplinarno
• Keywords (english): osteogenesis imperfecta; genetic diseases; operative; conservative; multidisciplinary
• Language: croatian
• URN:NBN: urn:nbn:hr:105:820315
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2021-02-26 11:21:53