Calcium Sensing Receptors: Coordinators of Mineral Metabolism and Therapeutic Targets for Metabolic Bone Disorders

2014 ◽  
pp. 80-115
Keyword(s):  
Mineral Metabolism ◽  
Therapeutic Targets ◽  
Bone Disorders ◽  
Calcium Sensing ◽  
Metabolic Bone

scholarly journals Congenital Metabolic Bone Disorders as a Cause of Bone Fragility

2021 ◽  
Vol 22 (19) ◽  
pp. 10281
Author(s):  
Francesca Marini ◽  
Francesca Giusti ◽  
Teresa Iantomasi ◽  
Maria Luisa Brandi
Keyword(s):  
Bone Tissue ◽  
Mineral Metabolism ◽  
Genetic Defect ◽  
Bone Fragility ◽  
Long Bone ◽  
Bone Modeling ◽  
Primary Osteoporosis ◽  
Bone Disorders ◽  
Metabolic Bone ◽  
Increased Risk

Bone fragility is a pathological condition caused by altered homeostasis of the mineralized bone mass with deterioration of the microarchitecture of the bone tissue, which results in a reduction of bone strength and an increased risk of fracture, even in the absence of high-impact trauma. The most common cause of bone fragility is primary osteoporosis in the elderly. However, bone fragility can manifest at any age, within the context of a wide spectrum of congenital rare bone metabolic diseases in which the inherited genetic defect alters correct bone modeling and remodeling at different points and aspects of bone synthesis and/or bone resorption, leading to defective bone tissue highly prone to long bone bowing, stress fractures and pseudofractures, and/or fragility fractures. To date, over 100 different Mendelian-inherited metabolic bone disorders have been identified and included in the OMIM database, associated with germinal heterozygote, compound heterozygote, or homozygote mutations, affecting over 80 different genes involved in the regulation of bone and mineral metabolism. This manuscript reviews clinical bone phenotypes, and the associated bone fragility in rare congenital metabolic bone disorders, following a disease taxonomic classification based on deranged bone metabolic activity.

scholarly journals Taxonomy of rare genetic metabolic bone disorders

2015 ◽  
Vol 26 (10) ◽  
pp. 2529-2558 ◽  
Author(s):  
L. Masi ◽  
D. Agnusdei ◽  
J. Bilezikian ◽  
D. Chappard ◽  
R. Chapurlat ◽  
...  
Keyword(s):  
Bone Disorders ◽  
Metabolic Bone

Metabolic Bone Disorders of the Spine

2011 ◽  
pp. 1571-1595
Author(s):  
Aasis Unnanuntana ◽  
Roberto Miki ◽  
Brian P. Gladnick ◽  
Pamela J. Sherman ◽  
Gigi R. Madore ◽  
...  
Keyword(s):  
Bone Disorders ◽  
Metabolic Bone
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