Department of Medicine, Faculty of Medical & Health Sciences, University of Auckland, New Zealand.
Metabolism. 2018 Mar;80:5-14. doi: 10.1016/j.metabol.2017.06.010. Epub 2017 Jul 4.
Paget's disease is a chronic focal high turnover bone disorder that is primarily present in middle-aged or older adults. It seems to be restricted to humans and has no clear parallels with other diseases. Although much has been learnt about its pathology and epidemiology, and treatment is now highly effective we still lack a complete understanding of its etiology and biology. This review focusses on the natural history of the disorder, in particular its changing epidemiology, recent discoveries about its genetic basis and current approaches to diagnosis and treatment. While there is strong evidence for genetic predisposition to Paget's disease, there is also compelling evidence that it is becoming less prevalent, the age of patients at presentation is increasing and that the extent of skeletal involvement is diminishing, implying that there is an important, but as yet unidentified, environmental factor in its etiology. Contemporary patients are typically elderly and have few bones involved. Treatment with potent intravenous bisphosphonates provides prolonged remission and many will require only once in a lifetime treatment.
佩吉特病是一种慢性局灶性高代谢性骨病，主要发生在中老年人。它似乎仅限于人类，与其他疾病没有明显的相似之处。尽管我们已经对其病理学和流行病学有了很多了解，并且治疗现在非常有效，但我们仍然缺乏对其病因和生物学的全面理解。这篇综述重点介绍了该疾病的自然史，特别是其不断变化的流行病学、最近关于其遗传基础的发现以及目前的诊断和治疗方法。虽然有强有力的证据表明佩吉特病存在遗传易感性，但也有确凿的证据表明该病的发病率正在下降，患者的发病年龄在增加，骨骼受累的程度在减少，这意味着在其病因中有一个重要但尚未确定的环境因素。当代患者通常年龄较大，受累骨骼较少。用强效静脉注射双膦酸盐进行治疗可提供长期缓解，许多患者只需进行一次终生治疗。
