Osteopetrosis del adultoconceptos actuales

1. Francisco Javier Cabrera Aguilar
2. Alberto Álvarez Perea
3. M. Gómez Antúnez
4. C. López González Cobos
5. Blanca Pinilla Llorente
6. Antonio Muiño Míguez

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DOI: 10.1016/S1132-8460(09)73464-6 DIALNET GOOGLE SCHOLAR lock_openOpen access editor

More publications in: Revista Española de Enfermedades Metabólicas Oseas

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Abstract

We presents four cases of adult osteopetrosis, a very rare disease, compiled from our hospital from 1985 to 2005. Revising the pathogenesis and updating the current concept and classification. The clinical manifestations correspond with other publications where the age at diagnosis is highly variable and the first symptom oscillate from bone pain to a fracture. Presents the classic genetic mutations of all types updating concepts. Introducing the propose withdrawal of adult osteoporosis type I, because the pathogenesis seemed a intrinsic osteoblastic defect.

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