Osteopetrosis Definition, Reason, Symptoms, Treatment & Prevention
Understanding
Osteopetrosis ( marble bone disease ) is a type of inherited disease, in which the bones become harder and denser. This condition is the opposite of osteoporosis, which is when the bones become more brittle.
This disease causes bone density to increase, causing skeletal abnormalities. Broadly speaking, osteopetrosis is distinguished based on several patterns, namely:
- An autosomal dominant pattern of osteopetrosis, where sufferers get it from one parent who has osteopetrosis
- An autosomal recessive pattern of osteopetrosis, in which both parents have the mutated carrier gene and do not show symptoms of osteopetrosis
- X-linked, which is a pattern of osteopetrosis in which mutations on the X chromosome of both parents have occurred
- Intermediate autosomal osteopetrosis
Symptoms
The most common sign of osteopetrosis is a broken bone. These symptoms arise due to decreased bone density. Osteopetrosis can cause bones to crumble and break. Although bones become denser, they tend to become more brittle.
Several other physical signs that can also appear in those with osteopetrosis, include:
- Growth disorders
- Hepatosplenomegaly
- Disorders of blood cell production
Reason
Osteopetrosis is an inherited disease due to genetic mutations. This genetic mutation causes acidification of bone resorption (or the process of acid formation) by osteoclasts. Osteoclasts are cells that dissolve and erode bone during the stages of the re-modeling or bone formation process.
One of the mechanisms causing osteopetrosis is a deficiency of carbonic anhydrase encoded by the CA2 gene. Carbonic anhydrase is required by osteoclasts to produce proton enzymes. Without this enzyme, bone resorption is reduced and bones become denser.
Several other genes that also play a role in the occurrence of osteopetrosis are the LRP5, CLCN7, and TCIRG1 genes.
Diagnosis
The diagnosis of osteopetrosis was determined based on the results of medical interviews and physical examination. In addition, supporting examinations such as X-rays, CT scans, and MRI can be performed to find abnormalities in radiology results and molecular analysis.
Treatment
Early diagnosis and appropriate treatment can minimize bone damage that occurs in patients with osteopetrosis. The treatment of osteopetrosis affected by osteoclast dysfunction is bone marrow transplantation. This is especially true for malignant infantile osteopetrosis.
Another treatment for this disorder is the administration of vitamin D. Meanwhile, corticosteroids can be given to stimulate the process of bone resorption. Appropriate treatment in case of fractures or fractures and osteomyelitis (bone infection due to bacteria) is also needed.
Prevention
Because genetic factors play a role, it can be said that there is no prevention for this disease.