Taxonomy of rare genetic metabolic bone disorders
| Autor: | Jean Kaufman, Nelson B. Watts, Paul D. Miller, Muhammad Javaid, Luisella Cianferotti, Roland Chapurlat, A. El Maghraoui, M. L. Brandi, Uri A. Liberman, Serge Ferrari, Daniel Chappard, J. P. Bilezikian, G. P. Lyritis, Emilio J.A. Roldán, S. Papapoulos, D Agnusdei, Nicola Napoli, Laura Masi, J P Devolgelaer |
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| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
medicine.medical_specialty
Bone metabolism Endocrinology Diabetes and Metabolism Osteoporosis Metabolic bone diseases Osteoclasts 030209 endocrinology & metabolism Osteocytes Bone remodeling Orphan drug 03 medical and health sciences 0302 clinical medicine Rare Diseases Osteoclast Internal medicine Rare bone diseases medicine Humans 030304 developmental biology Taxonomy ddc:616 0303 health sciences Bone Diseases Developmental Osteoblasts business.industry Osteopetrosis Genetic bone diseases medicine.disease Phenotype Rheumatology 3. Good health Metabolic Bone Disorder Bone Diseases Metabolic medicine.anatomical_structure Immunology Proteoglycans business |
| Zdroj: | Osteoporosis International, Vol. 26, No 10 (2015) pp. 2529-2558 Osteoporosis International, 26(10), 2529-2558 |
| ISSN: | 0937-941X |
| Popis: | This 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. Rare 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. IOF 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. This 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. This 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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