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慢性肾脏病合并有限透析通路情况下的骨肥大症:一例报告并讨论治疗意义

Leontiasis ossea in the setting of chronic kidney disease and limited dialysis access: A case report with discussion of therapeutic implications.

作者信息

Maletz Sebastian, Beauchamp Zackery, Petrilli John

机构信息

University of South Florida, Morsani College of Medicine, Tampa, FL, USA.

Department of Radiology, University of South Florida, Morsani College of Medicine, Tampa, FL, USA.

出版信息

Radiol Case Rep. 2024 Dec 12;20(3):1333-1337. doi: 10.1016/j.radcr.2024.11.049. eCollection 2025 Mar.

Abstract

Leontiasis ossea, also known as craniofacial fibrous dysplasia, is a rare form of osseous hypertrophy of the facial bones associated with chronic kidney disease and secondary hyperparathyroidism. As the condition progresses, changes in bone structure can lead to severe facial disfigurement, respiratory difficulties, dysarthria, and dysphagia. We describe the case of an approximately 30-year-old male with a long-standing history of end-stage renal disease who experienced rapidly progressing facial swelling and underlying bone changes following a period of poor access to dialysis. Despite brief symptomatic improvement following parathyroidectomy, the patient's hyperparathyroidism ultimately persisted. Subsequent immunomodulator therapy again offered subjective improvements but was discontinued in the setting of adverse effects. We provide a brief overview of the pathophysiology of leontiasis ossea, review imaging findings pertinent to the case presentation, and discuss relevant implications in the diagnosis and management of this disease.

摘要

骨性狮面,又称颅面骨纤维发育异常,是一种与慢性肾病和继发性甲状旁腺功能亢进相关的罕见的面部骨骼骨质肥大形式。随着病情进展,骨骼结构变化可导致严重的面部畸形、呼吸困难、构音障碍和吞咽困难。我们描述了一名约30岁男性的病例,该患者有终末期肾病的长期病史,在一段时间透析不便后,面部迅速肿胀且出现潜在的骨骼变化。尽管甲状旁腺切除术后症状有短暂改善,但患者的甲状旁腺功能亢进最终仍持续存在。随后的免疫调节剂治疗再次带来主观上的改善,但因出现不良反应而停药。我们简要概述骨性狮面的病理生理学,回顾与病例表现相关的影像学检查结果,并讨论该疾病诊断和管理中的相关问题。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/286f/11700241/00f335c37a60/gr1.jpg

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