“Osteogenesis imperfecta, also known as glass bone disease, is a very rare genetic disease that causes deformed, shorter and more fragile bones in the person that can suffer constant fractures.
This fragility seems to be due to a genetic defect that affects the production of type 1 collagen, naturally produced by osteoblasts and helps strengthen bones and joints, so the person who has osteogenesis imperfecta is already born with the disease, which may present cases of frequent fractures in childhood, for example.
- Although osteogenesis imperfecta has yet to have a cure.
- There are some treatments that help improve a person’s quality of life by reducing the risk and frequency of fractures.
According to the Sillence classification, there are 4 types of osteogenesis imperfecta, including:
In most cases, osteogenesis imperfecta is passed on to children, but the symptoms and severity of the disease may be different, as the type of disease can change from parent to child.
Glass bone disease is caused by a genetic alteration in the gene responsible for the production of type 1 collagen, the main protein used to create strong bones.
As a genetic alteration, osteogenesis imperfecta can pass from parents to children, but it can also occur without other cases in the family, due to mutations during pregnancy, for example.
In addition to causing changes in bone formation, people with osteogenesis imperfecta may also experience other symptoms such as:
In addition, in children with osteogenesis imperfecta, heart defects, which can be life-threatening, can also be diagnosed.
The diagnosis of osteogenesis imperfecta can, in some cases, be made even during pregnancy, as long as there is a high risk that the baby is born with the disease, in these cases a sample is taken from the umbilical cord where the collagen produced by Se is found. they analyze fetal cells between 10 and 12 weeks of gestation. Another less invasive way is to perform an ultrasound to identify bone fractures.
After birth, the diagnosis can be made by your pediatrician or pediatric orthopedic surgeon, by observing symptoms, a family history, or through tests such as x-rays, genetic testing, and biochemical blood tests.
There is no specific treatment for osteogenesis imperfecta and therefore it is important to consult with an orthopedist, bisphosphonates are generally used to strengthen bones and reduce the risk of fractures, however, it is of paramount importance that this type of treatment is constantly evaluated.doctor, as dose adjustment of treatment may need to be adjusted over time.
When fractures occur, your doctor may immobilize the bone with a cast or opt for surgery, especially in case of multiple or long-lasting fractures. Treatment of fractures is similar to that of people who do not, but the immobilization period is usually short.
Physical therapy for osteogenesis imperfecta can also be used in some cases to help strengthen the bones and muscles that support them, reducing the risk of fractures.
Some precautions for caring for children with osteogenesis imperfecta include:
Some children with osteogenesis imperfecta may perform light exercises, such as swimming, because they help reduce the risk of fractures, however, they should do so only with the doctor’s advice and under the supervision of a physical education teacher or physical therapist.