Osteogenesis imperfecta (OI) is a disease in the group of rare disorders in which bone formation is a severely delayed process, and bones are more commonly known as vitreous due to being extremely fragile and easily broken.
Osteogenesis imperfecta is an inherited disease. Osteogenesis imperfecta is caused by mutations in genes (COL1A1 and COL1A2) that lead to decreased procollagen synthesis.
In these patients, we can say that a number of other changes are also present that complement the brittle bones. Here are some of them:
- Hearing loss that may progress
- The sclerae of the eye have a blue color
- The ligaments and joint capsules loosen, leading to excess joint mobility
- Triangular head shape - OI patients often have a characteristic triangular head shape
- Low stature
How is osteogenesis imperfecta diagnosed?
- Through genetic testing to detect mutations in collagen genes.
- X-ray studies showing bone fractures
- Notification of succession.
Types of osteogenesis imperfecta.
There are a number of subtypes of the disease. These are defined based on how severe the symptoms are. We won't go into the types of OI in detail here.
Treatment.
So far there is no treatment for osteogenesis imperfecta.
Patients with osteogenesis imperfecta learn to minimize the occurrence of fractures by reducing physical activity. Avoiding and even excluding heavy physical work is also a good solution.
It is important to say here that clinical research in this field has not stopped and in the modern, dynamically developing field of medicine, many developments are being made to discover new treatments.
They are working hard to find a treatment in the form of gene therapy that will be able to correct the mutations causing weakened collagen fibres. Good results have also been reported in relation to the use of stem cells.
For more information, we at Medical Karaj are at your service.
Call us on the following numbers "Medical Karaj": 0879 977 401 or 0879 977 402.
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