Abstract |
Osteopetrosis is the generic name for a group of diseases caused by deficient formation or function of osteoclasts, inherited in either autosomal recessive or dominant fashion. Osteopetrosis varies in severity from a disease that may kill infants to an incidental radiological finding in adults. It is increasingly clear that prognosis is governed by which gene is affected, making detailed elucidation of the cause of the disease a critical component of optimal care, including the decision on whether hematopoietic stem cell transplantation is appropriate. This article reviews the characteristics and management of osteopetrosis.
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Authors | Colin G Steward |
Journal | Pediatric clinics of North America
(Pediatr Clin North Am)
Vol. 57
Issue 1
Pg. 171-80
(Feb 2010)
ISSN: 1557-8240 [Electronic] United States |
PMID | 20307717
(Publication Type: Journal Article, Review)
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Copyright | Copyright 2010 Elsevier Inc. All rights reserved. |
Topics |
- Child
- Genetic Predisposition to Disease
- Hematopoietic Stem Cell Transplantation
(methods)
- Humans
- Osteoclasts
(pathology)
- Osteopetrosis
(genetics, pathology, surgery)
- Treatment Outcome
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