Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management
Issued Date
2022-10-01
Resource Type
eISSN
20734425
Scopus ID
2-s2.0-85140580741
Pubmed ID
36292765
Journal Title
Genes
Volume
13
Issue
10
Rights Holder(s)
SCOPUS
Bibliographic Citation
Genes Vol.13 No.10 (2022)
Suggested Citation
Charoenngam N., Nasr A., Shirvani A., Holick M.F. Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management. Genes Vol.13 No.10 (2022). doi:10.3390/genes13101880 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/83587
Title
Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management
Author(s)
Author's Affiliation
Other Contributor(s)
Abstract
Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal homeostasis and encompass one of the most diverse groups among rare diseases. In this review, we examine 25 selected hereditary metabolic bone diseases and recognized genetic variations of 78 genes that represent each of the three groups, including sclerosing bone disorders, disorders of defective bone mineralization and disorder of bone matrix and cartilage formation. We also review pathophysiology, manifestation and treatment for each disease. Advances in molecular genetics and basic sciences has led to accurate genetic diagnosis and novel effective therapeutic strategies for some diseases. For other diseases, the genetic basis and pathophysiology remain unclear. Further researches are therefore crucial to innovate ways to overcome diagnostic challenges and develop effective treatment options for these orphan diseases.