尿毒症肾性骨病致退缩人综合征及面容改变1例并文献复习

Shrinking men syndrome accompanying physiognomy change caused by renal osteodystrophy: A case report and review of literature

目的报道并分析1例尿毒症透析患者合并严重肾性骨营养障碍致退缩人综合征、发生面容改变的病因及临床诊治特点。方法分析患者的临床及影像学资料并结合相关文献,探讨本病的临床特点及防治思路。结果该患者确诊尿毒症规律血液透析1年后出现血全段甲状旁腺激素(PTH)升高至2 208pg/L,曾行罗盖全2.0μg,2次/周冲击治疗4周,后停药。2年后颜面及双手关节逐渐变形并加重,伴脊柱左侧弯,严重骨痛及皮肤瘙痒。第6年出现"右侧股骨自发性骨折",自透析以来身高缩短8cm。入我院后给予高通量血液透析、纠正钙磷代谢紊乱、甲状旁腺次全切除术后,患者骨痛及皮肤瘙痒明显缓解,PTH显著下降至160pg/L。结论通过早期干预慢性肾脏病钙磷代谢紊乱,合理补充活性VitD3,控制甲状旁腺激素在目标水平,减少重度肾性骨营养障碍的发生,提高患者生活质量。

Objective To report a case of shrinking men syndrome（SMS） accompanying physiognomy change caused by renal osteodystrophy in a female patient with uremia undergoing dialysis and to analyze its pathogenesis.Methods Clinical and imaging data about the patient were analyzed.Clinical characteristics of SMS as well as its prevention and treatment were studied by reviewing the related literature.Results The iPTH of the patient increased to 2 208pg/L one year after regular renal dialysis.She was treated with 2.0μg Rocaltrol,twice a week for 4 weeks.Malformation of her face and articulations of both hands occurred and exacerbated accompanying left spinal bending,severe bone pain,and skin itching 2 years later.Spontaneous left femoral fracture occurred 6 years later.Her body height was 8cm shorter after dialysis.After high-volume blood dialysis,subtotal parathyroidec-tomy,correction of Ca and P metabolic disturbance,her bone pain and skin itching were significantly relived with her iPTH decreased to 160pg/L.Conclusion The quality of life in patients with SMS can be improved by early intervention of calcium and phosphorus metabolism,rational supplement of active VitD3,control of parathyroid hormone at the target range,and reduction of severe renal osteodystrophy incidence.