Rugilė Grincevičiūtė1, Ieva Karaliūtė1, Raimonda Putnaitė1
1Faculty of Medicine of the Medical Academy of the Lithuanian University of Health Sciences
Osteogenesis imperfecta (OI) is a multisystemic inherent connective tissue disorder, mostly caused by mutations in COL1A1 or COL1A2 gene. According to OI nomenclature, there are 5 types, which differ clinically. Patients suffer from bone fractures, growth deficiency. Extraskeletal manifestations such as blue sclera, hearing loss, joint hypermobility, teeth and lungs damage can be observed. If OI is suspected, dual-energy X-ray absorptiometry, spine radiography, biochemical tests of blood and urine should be done. OI diagnosis is confirmed by next generation sequencing. The main pharmacological treatment of OI remains bisphosphonates. In this article, we will review the etiology, classification, clinic, diagnostics, treatment options and prognosis of osteogenesis imperfecta.
Keywords: osteogenesis imperfecta, dual-energy X-ray absorptiometry, spine radiography, next generation sequencing, bisphosphonates