Bone Fragility in Patients Affected by Congenital Diseases Non Skeletal in Origin

Overview

Journal Orphanet J Rare Dis

Publisher Biomed Central

Specialty General Medicine

Date 2021 Jan 7

PMID 33407701

Citations 3

Authors

L Masi

S Ferrari

M K Javaid

S Papapoulos

D D Pierroz

M L Brandi

Affiliations

Soon will be listed here.

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.

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