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

Journal article

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.

Authors: Masi, L; Ferrari, S; Javaid, MK; Papapoulos, S; Pierroz, DD

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: BioMed Central
• Journal: Orphanet Journal of Rare Diseases
• Volume: 16
• Issue: 1
• Pages: 11-11
• Article number: 11
• Publication date: 2021-01-06
• DOI: 10.1186/s13023-020-01611-5
• EISSN: 1750-1172
• ISSN: 1750-1172
• Language: English
• Keywords: Human genetics; Genetics; Biology; Medicine; Bioinformatics; Pathology; Internal medicine; Osteoporosis; Bone remodeling