分子生物学: オープンアクセス

A Systematic Overview of Osteogenesis Imperfecta

Abstract

Samir Abdulkarim Alharbi

Osteogenesis imperfecta (OI) is a heterogeneous rare connective tissue disorder commonly caused by mutations in the collagen type 1 gene. It is a worldwide extensive disorder regardless of age, gender or ethnic group for a children and adults. Typical clinical features are brittle bone, high frequency of fractures and bone deformities. The other observed signs are blue sclera, dentinogenesis imperfect and otosclerosis. In this review, author make a systematic overview, including the mechanisms, classification, diagnostic methods, related to human concerned disease and treatment. The review also focuses on the OI related so many health concern diseases. In OI patients maintaining of health is very important otherwise, the bone deformities and collagen defects common to OI it can affect various internal organs, leading to major or minor secondary problems. Individuals and optimization of OI treatment in children and adults remain a challenge, because available treatments do not target then underlying collagen defect. Treatment includes physiotherapy, surgical procedures and pharmacology therapy. In this brief review, author mainly discusses current knowledge of pharmacology therapies and possible future therapies for treatment of OI.