Osteogenesis imperfecta: current concepts (CROSBI ID 482273)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Primorac, Dragan ; Rowe, David ; Mottes, Monica ; Barišić, Ingeborg ; Antičević, Darko ; Mirandola, Stefania ; Gomez Lira, Macarena ; Kalajzić, Ivo ; Kušec, Vesna ; Glorieux, Francis
engleski
Osteogenesis imperfecta: current concepts
Osteogenesis imperfecta (OI), or brittle bone disease is a heritable disorder characterized by increased bone fragility. Four different types are commonly distinguished that range from a mild condition (type I) to a lethal one (type II). Types III and IV are the severe forms surviving the neonatal period. In most cases, there is a reduction in the production of normal type I collagen or the synthesis of abnormal collagen as a result of mutations in the type I collagen genes. These "classic" forms of OI will be described in this paper in great detail. There are instances, however, where alterations in bone matrix compononents, other than type I collagen, are the basic abnormalities. Recently, three such discrete types have been identified by histomorphometric evaluation (types V and VI)and linkage analysis (Rhizomelic OI). They provide evidence for the as yet poorly understoodcomplexity of the phenotype-genotype correlation in OI. Here will also be discussed a bisphosphonates treatment as well as fracure management and surgical correction of deformities observed in the patients with OI. However, ulimately, strenghthening bone in OI will involve steps to correct the underlying genetic mutations that are responsible for this disorder. In this reviwe we will also give different genetic therapeutic approaches that have been tested either on OI cells or on available OI murine models.
osteogenesis imperfecta; collagen; dentinogenesis imperfecta; mutations; bisphosphonates
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
128-x.
2001.
objavljeno
Podaci o matičnoj publikaciji
The Second European-American Intensive Course in Clinical and Forensic Genetics
Primorac, Dragan
Zagreb:
Podaci o skupu
2nd European-American Intensive course in Clinical and Forensic Genetics
predavanje
03.09.2001-14.09.2001
Dubrovnik, Hrvatska