Taxonomy of rare congenital metabolic bone disorders

Autor: Masi, L., Agnusdei, D., Bilezikian, J., Chappard, Daniel, Chapurlat, R., Cianferotti, L., Devolgelaer, J.-P., El Maghraoui, A., Ferrari, S., Jakob, F., Javaid, K., Kaufman, J.-M., Liberman, U., Lyritis, G., Miller, P., Napoli, N., Roldan, E., Papapoulos, S., Watts, N.B., Brandi, M.L.
Přispěvatelé: Groupe d'Études Remodelage Osseux et bioMatériaux (GEROM), Université d'Angers (UA)
Jazyk: angličtina
Rok vydání: 2015
Předmět:
Zdroj: Osteoporosis International
Osteoporosis International, Springer Verlag, 2015, 26 (10), pp.2529-58. ⟨10.1007/s00198-015-3188-9⟩
ISSN: 0937-941X
1433-2965
DOI: 10.1007/s00198-015-3188-9⟩
Popis: International audience; SummaryThis article reports a taxonomic classification of rare skeletal diseases based on metabolic phenotypes. It was prepared by The Skeletal Rare Diseases Working Group of the International Osteoporosis Foundation (IOF) and includes 116 OMIM phenotypes with 86 affected genes.IntroductionRare skeletal metabolic diseases comprise a group of diseases commonly associated with severe clinical consequences. In recent years, the description of the clinical phenotypes and radiographic features of several genetic bone disorders was paralleled by the discovery of key molecular pathways involved in the regulation of bone and mineral metabolism. Including this information in the description and classification of rare skeletal diseases may improve the recognition and management of affected patients.MethodsIOF recognized this need and formed a Skeletal Rare Diseases Working Group (SRD-WG) of basic and clinical scientists who developed a taxonomy of rare skeletal diseases based on their metabolic pathogenesis.ResultsThis taxonomy of rare genetic metabolic bone disorders (RGMBDs) comprises 116 OMIM phenotypes, with 86 affected genes related to bone and mineral homeostasis. The diseases were divided into four major groups, namely, disorders due to altered osteoclast, osteoblast, or osteocyte activity; disorders due to altered bone matrix proteins; disorders due to altered bone microenvironmental regulators; and disorders due to deranged calciotropic hormonal activity.ConclusionsThis article provides the first comprehensive taxonomy of rare metabolic skeletal diseases based on deranged metabolic activity. This classification will help in the development of common and shared diagnostic and therapeutic pathways for these patients and also in the creation of international registries of rare skeletal diseases, the first step for the development of genetic tests based on next generation sequencing and for performing large intervention trials to assess efficacy of orphan drugs.
Databáze: OpenAIRE
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