- Marble bones
- Marble bone disease
- Albers-Schonberg disease
- Osteosclerosis fragilis
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Treatment is necessary for the infantile form:
- Vitamin D (calcitriol) appears to stimulate dormant osteoclasts, which stimulates bone resorption. Large doses of calcitriol with restricted calcium intake sometimes improves osteopetrosis dramatically, but the improvement seen with calcitrol is not sustained when therapy is stopped.
- Gamma interferon can have long-term benefits. It improves white blood cell function (leading to fewer infections), decreases bone volume, and increases bone marrow volume.
- Erythropoietin can be used for anemia, and corticosteroids can be used for anemia and to stimulate bone resorption.
Bone marrow transplantation (BMT) markedly improves some cases of severe, infantile osteopetrosis associated with bone marrow failure, and offers the best chance of longer-term survival for individuals with this type.
In pediatric (childhood) osteopetrosis, surgery is sometimes needed because of fractures.
Adult osteopetrosis typically does not require treatment, but complications of the condition may require intervention. Surgery may be needed for aesthetic or functional reasons (such as multiple fractures, deformity, and loss of function), or for severe degenerative joint disease.
- Robert Blank. Osteopetrosis. Medscape Reference. December 17, 2014; http://emedicine.medscape.com/article/123968-overview.
- Zornitza Stark and Ravi Savarirayan. Osteopetrosis. Orphanet. October, 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2781.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- ClinicalTrials.gov lists trials that are studying or have studied Osteopetrosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
|Generic Name||Interferon gamma-1b|
(InterMune , Inc.)
The FDA has approved this product to be used in this manner.
|Delaying time to disease progression in patients with severe, malignant osteopetrosis.|
|More Information about this product||Drug Information Portal|