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.
摘要：
遗传性代谢性骨病的特征是骨骼稳态的遗传异常，并且包括罕见疾病中最多样化的群体之一。在这次审查中,我们检查了25个选定的遗传性代谢性骨疾病，并识别了代表三组中每一组的78个基因的遗传变异，包括骨硬化性疾病,骨矿化缺陷障碍和骨基质和软骨形成障碍。我们还回顾了病理生理学，每种疾病的表现和治疗。分子遗传学和基础科学的进步导致了对某些疾病的准确遗传诊断和新的有效治疗策略。对于其他疾病,遗传基础和病理生理学尚不清楚。因此，进一步的研究对于创新方法以克服诊断挑战并为这些孤儿疾病开发有效的治疗方案至关重要。
