期刊
BRITISH JOURNAL OF CLINICAL PHARMACOLOGY
卷 85, 期 6, 页码 1147-1160出版社
WILEY
DOI: 10.1111/bcp.13803
关键词
genetic diseases; genetics and pharmacogenetics; molecular biology; osteoporosis; rheumatology
资金
- Wellcome Trust Investigator Award [106995/Z/15/Z]
- National Institute for Health Research (NIHR) Oxford Biomedical Research Centre Program
- NIHR Senior Investigator Award [NF-SI-0514-10091]
- Scottish Senior Clinical Fellowship - Chief Scientist Office (CSO)/NHS Research Scotland (NRS)
- University of Dundee [SCAF/15/01]
- Shriners Hospitals for Children
- Wellcome Trust [106995/Z/15/Z] Funding Source: Wellcome Trust
Metabolic bone diseases comprise a diverse group of disorders characterized by alterations in skeletal homeostasis, and are often associated with abnormal circulating concentrations of calcium, phosphate or vitamin D metabolites. These diseases commonly have a genetic basis and represent either a monogenic disorder due to a germline or somatic single gene mutation, or an oligogenic or polygenic disorder that involves variants in more than one gene. Germline single gene mutations causing Mendelian diseases typically have a high penetrance, whereas the genetic variations causing oligogenic or polygenic disorders are each associated with smaller effects with additional contributions from environmental factors. Recognition of familial monogenic disorders is of clinical importance to facilitate timely investigations and management of the patient and any affected relatives. The diagnosis of monogenic metabolic bone disease requires careful clinical evaluation of the large diversity of symptoms and signs associated with these disorders. Thus, the clinician must pursue a systematic approach beginning with a detailed history and physical examination, followed by appropriate laboratory and skeletal imaging evaluations. Finally, the clinician must understand the increasing number and complexity of molecular genetic tests available to ensure their appropriate use and interpretation.
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