Cheng Y, Lu W, Wu K L
Department of Nephrology, the First Affiliated Hospital of Anhui Medical University, Hefei 230022.
Department of Otorhinolaryngology Head and Neck Surgery, the First Affiliated Hospital of Anhui Medical University, Hefei 230022.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2019 Dec 7;54(12):924-927. doi: 10.3760/cma.j.issn.1673-0860.2019.12.008.
To investigate the etiology, characteristics and prevention of severe facial deformity in patients with uremia entering the dialysis stage. Four cases with uremia in the dialysis stage who presented with severe facial deformity between October 2011 and November 2018 were reviewed, including 3 males and 1 female. The ages were 31, 15, 51 and 61, respectively. The general information, clinical symptoms, biochemical indicators, relevant imaging indicators, diagnoses, treatments and efficacies of the 4 patients admitted to the First Affiliated Hospital of Anhui Medical University were collected. All the 4 patients appeared obviously shorter, accompanied by a certain degree of decline in self-care ability, multiple bone and joint pain and severe facial deformity. They presented with significantly increased serum levels of alkaline phosphatase, calcium, phosphorus and parathyroid hormone, and parathyroid hormone level>2 500 pg/ml.Ultrasonography and (99)Tc(m) radionuclide scan showed in situ or ectopic hyperplasia of parathyroid tissue. Bone radiography showed local decrease of bone mineral density and cystic changes.After parathyroidectomy, the serum levels of alkaline phosphatase, parathyroid hormone, calciumand phosphorus decreased significantly, while bone pain symptoms and facial deformities gradually improved. Secondary hyperparathyroidism is a serious complication in patients with dialysis and few of patients may have severe facial deformity (Sagliker syndrome) affecting their normal life and social activities. Parathyroidectomy can improve the facial deformity and the quality of life of patients.
探讨进入透析阶段的尿毒症患者严重面部畸形的病因、特点及防治方法。回顾性分析2011年10月至2018年11月期间收治的4例进入透析阶段且出现严重面部畸形的尿毒症患者，其中男性3例，女性1例，年龄分别为31岁、15岁、51岁和61岁。收集安徽医科大学第一附属医院收治的这4例患者的一般资料、临床症状、生化指标、相关影像学指标、诊断、治疗及疗效。4例患者均出现明显身材矮小，伴有一定程度的生活自理能力下降、多处骨与关节疼痛及严重面部畸形。血清碱性磷酸酶、钙、磷及甲状旁腺激素水平显著升高，甲状旁腺激素水平>2 500 pg/ml。超声及99锝（m）放射性核素扫描显示甲状旁腺组织原位或异位增生。骨X线检查显示局部骨密度减低及囊性变。甲状旁腺切除术后，血清碱性磷酸酶、甲状旁腺激素、钙及磷水平显著下降，骨痛症状及面部畸形逐渐改善。继发性甲状旁腺功能亢进是透析患者的严重并发症，少数患者可出现严重面部畸形（Sagliker综合征），影响正常生活及社会活动。甲状旁腺切除术可改善患者面部畸形及生活质量。
