A rare genetic disorder inherited in an autosomal dominant, autosomal recessive, or X-linked recessive pattern. In the majority of cases it is caused by mutations in the CLCN7, TCIRG1, or IKBKG genes. It is characterized by excessive bone formation due to the failure of osteoclasts to resorb bone. It manifests with deformities, fractures, hepatosplenomegaly, anemia, and extramedullary hematopoiesis.
Symptoms of Osteopetrosis
The following features are indicative of Osteopetrosis:
stunted growth
increased likelihood of fractures
facial paralysis
deafness
bone pain
hearing impairment
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Common Causes of Osteopetrosis
The following are the most common causes of Osteopetrosis:
genetic mutation in the chloride voltage-gated channel 7 (CLCN7) gene
genetic mutation in the T cell immune regulator 1 (TCIRG1) gene
genetic mutation in the IKBKG gene
Risk Factors for Osteopetrosis
The following factors may increase the likelihood of Osteopetrosis:
population of Denmark and Costa Rica
Prevention of Osteopetrosis
Yes, it may be possible to prevent Osteopetrosis. Prevention may be possible by doing the following:
genetic counseling
Occurrence of Osteopetrosis
Number of Cases
The following are the number of Osteopetrosis cases seen each year worldwide:
Rare between 10K - 50K cases
Common Age Group
Osteopetrosis can occur at any age.
Common Gender
Osteopetrosis can occur in any gender.
Lab Tests and Procedures for Diagnosis of Osteopetrosis
The following lab tests and procedures are used to detect Osteopetrosis:
Genetic testing: Confirms the diagnosis and differentiates between different subtypes of osteopetrosis
Doctor for Diagnosis of Osteopetrosis
Patients should visit the following specialists if they have symptoms of Osteopetrosis:
Medical Geneticist
Complications of Osteopetrosis if untreated
Yes, Osteopetrosis causes complications if it is not treated. Below is the list of complications and problems that may arise if Osteopetrosis is left untreated:
osteomyelitis
exposed necrotic bone
impaired wound healing
Procedures for Treatment of Osteopetrosis
The following procedures are used to treat Osteopetrosis:
Bone marrow transplantation (BMT): Improves severe cases of infantile osteopetrosis associated with bone marrow failure
Surgery in Pediatrics: Helps in recovery of fractures
Patient Support for Treatment of Osteopetrosis
The following actions may help Osteopetrosis patients:
Nutritional support: Improves growth and enhances responsiveness to other treatment options
