Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management


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.

Authors Charoenngam N, Nasr A, Shirvani A, Holick MF
Journal Genes
Publication Date 2022 Oct 17;13(10)
PubMed 36292765
PubMed Central PMC9601711
DOI 10.3390/genes13101880

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