L Masi1, S Ferrari2, M K Javaid3, S Papapoulos4, D D Pierroz5, M L Brandi6,7. 1. Metabolic Bone Diseases Unit, University Hospital of Florence, AOU-Careggi, Florence, Italy. 2. Division of Bone Diseases, Faculty of Medicine, Geneva University Hospital, Geneva, Switzerland. 3. Oxford NIHR Musculoskeletal Biomedical Research Unit, University of Oxford, Oxford, UK. 4. Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands. 5. International Osteoporosis Foundation (IOF), Rue Juste-Olivier 9, 1260, Nyon, Switzerland. 6. Fondazione Italiana Ricerca sulle Malattie dell'Osso, Florence, Italy. marialuisa.brandi@unifi.it. 7. Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy. marialuisa.brandi@unifi.it.
Abstract
BACKGROUND: Bone tissue represents a large systemic compartment of the human body, with an active metabolism, that controls mineral deposition and removal, and where several factors may play a role. For these reasons, several non-skeletal diseases may influence bone metabolism. It is of a crucial importance to classify these disorders in order to facilitate diagnosis and clinical management. This article reports a taxonomic classification of non-skeletal rare congenital disorders, which have an impact on bone metabolism METHODS: The International Osteoporosis Foundation (IOF) Skeletal Rare Diseases Working Group (SRD-WG), comprised of basic and clinical scientists, has decided to review the taxonomy of non-skeletal rare disorders that may alter bone physiology. RESULTS: The taxonomy of non-skeletal rare congenital disorders which impact bone comprises a total of 6 groups of disorders that may influence the activity of bone cells or the characteristics of bone matrix. CONCLUSIONS: This paper provides the first comprehensive taxonomy of non-skeletal rare congenital disorders with impact on bone physiology.
BACKGROUND: Bone tissue represents a large systemic compartment of the human body, with an active metabolism, that controls mineral deposition and removal, and where several factors may play a role. For these reasons, several non-skeletal diseases may influence bone metabolism. It is of a crucial importance to classify these disorders in order to facilitate diagnosis and clinical management. This article reports a taxonomic classification of non-skeletal rare congenital disorders, which have an impact on bone metabolism METHODS: The International Osteoporosis Foundation (IOF) Skeletal Rare Diseases Working Group (SRD-WG), comprised of basic and clinical scientists, has decided to review the taxonomy of non-skeletal rare disorders that may alter bone physiology. RESULTS: The taxonomy of non-skeletal rare congenital disorders which impact bone comprises a total of 6 groups of disorders that may influence the activity of bone cells or the characteristics of bone matrix. CONCLUSIONS: This paper provides the first comprehensive taxonomy of non-skeletal rare congenital disorders with impact on bone physiology.
Entities:
Keywords:
Bone metabolism; Genetic bone diseases; Metabolic bone diseases; Non-skeletal rare congenital disorders; Taxonomy
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