Brittle bone disease
Brittle bone disease is a disease that can be seen together with fruquent fractures, blue sclerae, dental disorders and hearing impairment.
What causes Osteogenesis Imperfecta?
Osteogenesis Imperfecta is associated with structural defect of ‘type 1’ of collagen in the bone.
Brittle bone disease, familial genetic structure of mother and father as shown by the transition.However the disease can be seen as a result of intrauterine mutations.. If the mother or father to pass one of the familial disease, the child has a 50% risk of disease. In addition, the disease can be due to Guerlain Mosaizm genes in which, some of the mothers and fathers may be intact. If this child has the diseased genes, she/he has the disease. Mosaizm mothers and fathers, the risk of being infected with a child is betten 2-7%.
Brittle bone disease diagnosed clinically. Also skin biopsy, genetic testing and intrauterine blood, can be performed by amniocentesis from 14 to 18 weeks.
Osteogenesis Imperfecta types
4 types of brittle bone disease, is available. Type 2 Brittle Bone disease children succumb early postpartum period. Besides, sclera types being white, or blue, with or without dental disorders, brittle bone disease can be associated with hearing impairment.
Development of Brittle Bone disease
Brittle bone disease, type 1 collagen structure in the form of disorder in childhood is finding. Most of the time the first signs of recurrent fractures, blue sclera, dental disorders may aalso be associated. The least severe form of the disease is the one classifed as Type 4.
Brittle Bone disease treatment
Fractures treatment should be applied once the patient has a fracture. In patients with bone deformities because of the neglected and improperly treated fractures, deformities can be corrected surgically with intramedullary fixation. Promising studies are in progress on gene therapy and treatment with growth hormone.
Decreasing the frequency of fractures
In recent years, in order to reduce the frequency of fractures secondary to osteoporosis, bisphosphonates are used with a certain dose and interval to decrease the frequency of the fractures in Osteogenesis Imperfecta. Mobilization of these children bears paramount importance and physical therapy and rehabilitation is an absolute need for them.
The number of patients in our country
Total number of patients in Turkey is not known.
The number of patients around the world
The exact number of patients in the United States is unknown, but by the Foundation osteogenesis imperfecta brittle bone disease people are estimated to be between 20 000 and 50 000.
Recommendations for people who are suffering from Osteogenesis Imperfecta
The relatives of those diagnosed with brittle bone disease who give care them should take into consideration of the risk of breaking bones, circumspectly transfer of the patient, performing exercises as demonstrated.
For school records, in case of illness or admittance to the authorities, It is extremily important to provide correct information about the disease. In these patients, hearing loss, dental problems should also be evaluated perodically by experts.
What are the methods of treatment for Patients who had not received any treatment for 10-15 years?
Correction of deformities and osteoporosis prevention following full evaluation can be planned.