Osteogenesis imperfecta: Pathogenesis, Symptoms & Treatments
Pathogenesis
Osteogenesis imperfect (OI), also called brittle bone disease, is a type of connective tissue disease that causes skeletal fragility and growth deficiency in the bones. Currently, several genes have been identified as contributing to the disease. However, until now, mainly OI has been involved in the collagen structure-changing mutation of COL1A1 and COL1A2, which encode α1 and α2 chains that form collagen type I It has been known as an autosomal dominant disease. Several studies have also shown that a number of genes, including BRIL, PEDF, CRTAP, P3H1, CYPB, HSP47, WNT1 and BMP1, induce OI by mechanisms other than collagen formation.
Symptoms
Osteogenesis imperfecta is characterized by mild trauma or multiple fractures without any external factors. OI is initially diagnosed by clinical and radiographical findings. Clinical symptoms include mild trauma fractures, long bone curves Bowing, and growth abnormalities. In addition, the characteristic clinical features may include blue sclerae. In addition, there is evidence of generalized osteopenia on skeletal radiography, and there are signs such as lone-bone bowing, undertubulation and metaphyseal flaring. Primary osteoporosis / osteopenia due to imbalance of osteogenesis There are many aspects.
Treatments
The goal of treatment and management of stomach disorders is not to be significantly different from the treatment goals of osteoporosis in that it reduces the fracture rate, in addition to reducing long-bone deformity, minimizing chronic pain, and maximizing motor and functional aspects .
In addition to physical therapy, there are surgical treatment and drug treatment if necessary. Drugs commonly used for osteoporosis include bisphosphonate (pamidronate, zoledronate) and SERM preparation.
Osteogenesis imperfect (OI), also called brittle bone disease, is a type of connective tissue disease that causes skeletal fragility and growth deficiency in the bones. Currently, several genes have been identified as contributing to the disease. However, until now, mainly OI has been involved in the collagen structure-changing mutation of COL1A1 and COL1A2, which encode α1 and α2 chains that form collagen type I It has been known as an autosomal dominant disease. Several studies have also shown that a number of genes, including BRIL, PEDF, CRTAP, P3H1, CYPB, HSP47, WNT1 and BMP1, induce OI by mechanisms other than collagen formation.
Symptoms
Osteogenesis imperfecta is characterized by mild trauma or multiple fractures without any external factors. OI is initially diagnosed by clinical and radiographical findings. Clinical symptoms include mild trauma fractures, long bone curves Bowing, and growth abnormalities. In addition, the characteristic clinical features may include blue sclerae. In addition, there is evidence of generalized osteopenia on skeletal radiography, and there are signs such as lone-bone bowing, undertubulation and metaphyseal flaring. Primary osteoporosis / osteopenia due to imbalance of osteogenesis There are many aspects.
Treatments
The goal of treatment and management of stomach disorders is not to be significantly different from the treatment goals of osteoporosis in that it reduces the fracture rate, in addition to reducing long-bone deformity, minimizing chronic pain, and maximizing motor and functional aspects .
In addition to physical therapy, there are surgical treatment and drug treatment if necessary. Drugs commonly used for osteoporosis include bisphosphonate (pamidronate, zoledronate) and SERM preparation.
