Bone fragility in patients affected by congenital diseases non skeletal in origin

Masi, L.; Ferrari, S.; Javaid, M.K.; Papapoulos, S.; Pierroz, D.D.; Brandi, M.L.; IOF Skeletal Rare Dis Working Grp

doi:doi:10.1186/s13023-020-01611-5

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 metabolismMethods: 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...Show moreBackground: 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 metabolismMethods: 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.Show less

Leiden University Scholarly Publications

View statistics

Documents

In Collections

Bone fragility in patients affected by congenital diseases non skeletal in origin