Alsarraf Farah, Ali Dalal S, Brandi Maria Luisa
Department of Endocrinology, Mubarak Alkabeer University Hospital, Kuwait City, Kuwait.
Division of Endocrinology and Metabolism, McMaster University, Hamilton, ON, Canada.
Calcif Tissue Int. 2025 Jan 22;116(1):32. doi: 10.1007/s00223-024-01323-z.
Rare bone diseases are clinically and genetically heterogenous. Despite those differences, the underlying pathophysiology is not infrequently different. Several of these diseases are characterized by abnormal bone metabolism and turnover with subsequent abnormalities in markers of bone turnover, rendering them useful adjuncts in the diagnostic process. As most rare bone diseases are inherited, genetic testing for implicated pathogenic variants, where known, is another relevant tool that can aid in diagnosis. While some skeletal disorders can be localized or monostotic, others can involve multiple skeletal sites and warrant imaging tools to localize them and determine the severity of disease and/or presence of complications as well as to assess bone quality and the potential risk of fractures. Rare bone disorders pose a great challenge in their diagnosis, ultimately resulting in delayed diagnosis, higher risk of complications and a poor quality of life in affected individuals. In this review we discuss the biochemical and radiological tools that can be utilized to diagnose selected orphan bone disorders, the clinical utility and limitations of these diagnostic tools, and areas where future research is warranted.
罕见骨病在临床和遗传方面具有异质性。尽管存在这些差异，但其潜在的病理生理学并非罕见地有所不同。其中几种疾病的特征是骨代谢和骨转换异常，随后骨转换标志物出现异常，这使得它们在诊断过程中成为有用的辅助手段。由于大多数罕见骨病是遗传性的，对已知的相关致病变异进行基因检测是另一种有助于诊断的相关工具。虽然一些骨骼疾病可能是局限性的或单骨的，但其他疾病可能涉及多个骨骼部位，需要影像学工具来定位它们，并确定疾病的严重程度和/或并发症的存在情况，以及评估骨质和骨折的潜在风险。罕见骨病在诊断方面面临巨大挑战，最终导致诊断延迟、并发症风险增加以及受影响个体的生活质量低下。在本综述中，我们讨论了可用于诊断特定罕见骨病的生化和放射学工具、这些诊断工具的临床实用性和局限性，以及未来有必要开展研究的领域。
