阿仑膦酸钠治疗进行性骨化性肌炎1例报告  

A case of fibrodysplasia ossificans progressiva treated by alendronate

作　　者：张克勤[1] 张伟[1] 张晓乐[1] 张春玉[2] 

机构地区：[1]南京医科大学第一附属医院内分泌科和骨质疏松中心,南京210029 [2]大连医科大学第二附属医院内分泌科,大连116000

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2010年第1期23-27,共5页Chinese Journal Of Osteoporosis And Bone Mineral Research

摘　　要：进行性骨化性纤维增殖不良症(fibrodysplasia ossificans progressiva,FOP)也称进行性骨化性肌炎(myositis ossificans progressiva,MOP),是一种灾难性罕见的先天性致残性疾病,以自发产生的肌肉炎症或肌肉受损伤诱导的进行性异位成骨为特征,并导致关节融合和活动障碍。本文报道了一例经典型FOP患者的诊断的治疗。该患者为38岁女性,生后即可见拇趾缩短畸形,4岁起由外伤诱导后全身多处出现皮下包块,包块消退后邻近原包块的关节逐渐变强直和固定。24岁起全身肌肉和骨骼疼痛伴全身浮肿,X线片显示全身多关节周围有异位骨化灶,用Alendronate治疗1个月后全身疼痛和浮肿逐渐消退,6个月后双手掌指关节、指间关节、双膝关节和双腕关节活动度有不同程度的好转,腹部皮下包块不断缩小。氨基二膦酸盐治疗FOP的效果和机制值得进一步研究。Fibrodysplasia ossificans Progressiva （FOP） is a rare, catastrophic congenital disabling disorder, which is characterized by spontaneous myositis-induced or skeletal muscle injury-induced progressive heterotopic ossifica- tion （ HO）, and subsequent major joint fusion. We here report the clinical profile and treatment of a classic case of FOP. This 38-year-old woman was seen to have great toe malformation after birth; Since 4 years old, she consecutively suffered from subcutaneous swellings induced by blunt muscle trauma, the major joints gradually became permanently immobile as the swellings subsides. Since 24 years old she suffered from bone and muscle pain, and edema all over the body. X-ray films showed severe HO around all the major joints and high density in the muscle of extremities. Alendronate （70mg/ week） was solely used for treatment, the pain of bone and muscle vanished after 1 month of treatment, the movements in joints of finger, knee, and ~Tist improved gradually between 6 ~ 23 monthes of treatment, and the subcutaneous masses in the abdomen are getting smaller or disappeared. The serum osteocalcin level decreased markedly. However the movements in other major joints were not improved. The treatment efficacy and mechanism of alendronate for FOP is worthy of further investigation.

关 键 词：进行性骨化性纤维增殖不良症 进行性骨化性肌炎 异位骨化 基因突变 二膦酸盐 

分 类 号：R685.2[医药卫生—骨科学]