Zuzana Nudzajová, Peter Bánovčin, Jana Kršiaková, Zuzana Pribilincová, Mirko Zibolen, Jozef Marec, Jana Bartošová
Osteogenesis imperfecta (brittle bone disease) is hereditary bone metabolism disease, characterized by low bone density
and increased bone fragility. Its origin is based on mutation of genes coding collagen type I synthesis. The result
of gene defect is protein production failure affecting steps of collagen synthesis. It leads to collagen type I malfunction
in bone matrix and other connective tissues, resulting in low bone density, frequent long bones fractures and deformation
creation. The therapy consists of calcium and vitamin D supplementation, for bone reinforcement the effect of bisphosphonates
is used. The article brings theoretical findings about nature, pathophysiology, clinical manifestation,
classification and treatment of the disease.