The treatment for osteopetrosis, which is a congenital disease that causes the development of very dense and brittle bones, must be guided by a team of several health professionals, such as a pediatrician, an orthopedist, a hematologist, an endocrinologist and a physiotherapist. example.
Generally, the treatment of osteopetrosis varies according to the type of the disease, and in the case of children with malignant childhood osteopetrosis the most effective treatment is bone marrow transplantation.
Learn more at: Bone marrow transplantation.
However, other treatments that can be used on children and adults include:
- Injections with Interferon gamma-1b, which is a drug that can delay the development of the disease; Ingestion of Calcitriol, which is an active form of vitamin D that helps to stimulate bone cells to develop normally and reduce bone density; Ingestion of Prednisone, which is a hormone similar to cortisone that can improve the production of defense cells in the body, which are produced in the bones; Physiotherapy sessions, as they improve the patient's physical capacity, helping to prevent bone fractures and improve independence in some daily activities.
The doctor may also advise you to consult a nutritionist to adapt your diet to include foods that help facilitate body and bone development, especially during childhood.
In addition, it is important to make regular visits to the ophthalmologist, otolaryngologist and dentist to assess the development and possible appearance of some lesions or malformations in the eyes, teeth, nose, ears and throat, for example.
Diagnosis of osteopetrosis
The diagnosis of osteopetrosis can be made by an orthopedist using an X-ray to observe the density of the body's bones.
However, to confirm the type and complications of osteopetrosis, the doctor may also order other diagnostic tests, such as CT scan or MRI to assess the presence of lesions in some organs such as eyes and ears.
Causes of osteopetrosis
Osteopetrosis is caused by defects in one or more genes responsible for the formation and development of osteoclasts, which are the cells that remove old bone tissue and replace it with a new, healthy one.
Depending on the origin of the altered genes, the type of osteopetrosis can vary:
- Malignant childhood osteopetrosis: the child has the disease since birth due to defects in the genes inherited from the father and mother; Adult osteopetrosis: osteopetrosis is only diagnosed in adolescence or adulthood, being caused by altered genes inherited from only the father or mother.
In the case of adult osteopetrosis, the alteration of genes can also be caused by a mutation, without having to inherit the alteration from the parents.
Osteopetrosis symptoms
The main symptoms of osteopetrosis include:
- Frequent bone fractures; Blurred vision; Difficulty hearing; Recurrent infections of teeth and gums; Decrease in blood cells in blood tests.
These symptoms can vary according to the type of osteopetrosis of the patient, being that the more symptoms are more severe in the malignant infantile form of osteopetrosis.
