Osteitis fibrosa cystica (OFC) and Brown Tumours are two related but distinct types of bone lesions that result from the overactivity of osteoclasts and are most often associated with chronic kidney disease (CKD). Despite their potential consequences, these conditions are poorly understood because of their rare prevalence and variability in their clinical manifestation. Canonically, OFC and Brown Tumours are caused by secondary hyperparathyroidism in CKD. Recent literature showed that multiple factors, such as hyperactivation of the renin–angiotensin–aldosterone system and chronic inflammation, may also contribute to the occurrence of these diseases through osteoclast activation. Moreover, hotspot KRAS mutations were identified in these lesions, placing them in the spectrum of RAS–MAPK-driven neoplasms, which were until recently thought to be reactive lesions. Some risk factors contributed to the occurrence of OFC and Brown Tumours, such as age, gender, comorbidities, and certain medications. The diagnosis of OFC and Brown Tumours includes clinical symptoms involving chronic bone pain and laboratory findings of hyperparathyroidism. In radiological imaging, the X-ray and Computed tomography (CT) scan could show lytic or multi-lobular cystic alterations. Histologically, both lesions are characterized by clustered osteoclasts in a fibrotic hemorrhagic background. Based on the latest understanding of the mechanism of OFC, this review elaborates on the manifestation, diagnosis, and available therapies that can be leveraged to prevent the occurrence of OFC and Brown Tumours.
囊性纤维性骨炎与棕色瘤是两种相关但不同类型的骨病变，由破骨细胞过度活化引起，最常见于慢性肾脏病患者。尽管这些病变可能带来严重后果，但由于其罕见性及临床表现的多样性，目前对其认识仍不充分。传统观点认为，囊性纤维性骨炎与棕色瘤主要由慢性肾脏病继发的甲状旁腺功能亢进症引起。最新研究表明，肾素-血管紧张素-醛固酮系统过度激活及慢性炎症等多重因素也可能通过激活破骨细胞参与疾病发生。此外，研究在这些病变中发现了KRAS热点突变，将其归入RAS-MAPK信号通路驱动的肿瘤谱系——这类病变此前长期被认为是反应性病变。年龄、性别、合并症及特定药物等风险因素可能促进疾病发生。诊断主要依据慢性骨痛等临床症状及甲状旁腺功能亢进的实验室指标。影像学检查中，X射线和计算机断层扫描可显示溶骨性或多房囊性改变。组织学上，两种病变均以纤维化出血背景中聚集的破骨细胞为特征。本文基于对囊性纤维性骨炎发病机制的最新认识，系统阐述其临床表现、诊断方法及可用于预防这两种病变的现有治疗策略。
Brown Tumour in Chronic Kidney Disease: Revisiting an Old Disease with a New Perspective
肿瘤(癌症)患者之家