Genetic, clinical and therapeutic bases of osteogenesisimperfecta

Abstract

Introduction:osteogenesisimperfecta is a genetic disorder considered a rare disease of difficult diagnosis and without effective treatment.

Objective: to describe the genetic origin of osteogenesisimperfecta, its clinical manifestations and therapeutic management.

Methods: a bibliographic review was carried out consulting 29 articles, available in the databases of Scielo, Medline, Cochrane, SCOPUS, Science Direct and Pubmed; as well as in national and international magazines; Those published in peer-reviewed journals were considered preferentially; An exhaustive evaluation of each one of the studies was made using the scientific quality evaluation criteria as an aid strategy.

Development: although 90% of the cases are caused by failures in the COL1A1 and COL1A2 genes, genes such as CRTAP and LEPRE have been implicated and cases have been presented where the origin of the mutation is not inherited by an autosomal pattern dominant but de novo mutations. Four types have been described based on clinical and radiological criteria, but eleven varieties have been determined based on histological and molecular differences.

Conclusions:osteogenesisimperfecta is a rare genetic disorder that affects connective tissue, characterized by a predisposition to recurrent fractures and bone deformities. The classic clinical picture is characterized by bone fragility, short stature, blue sclerae and difficulties with locomotion, however, atypical presentations are not ruled out. The ideal treatment to date is the use of bisphosphonates, however, new alternatives are being sought to counteract the undesirable effects of their prolonged use.