散发性低磷血性骨软化症临床及影像学表现

Clinical and image manifestations of sporadic hypophosphatemic osteomalacia

目的观察散发性低磷血性骨软化症(HO)的临床及影像学表现。方法回顾性分析19例散发性HO患者,观察其临床及影像学表现。结果19例散发性HO患者首发症状均为不同程度骨痛及肌无力;19例均见低磷血症,9例血钙降低,16例碱性磷酸酶(ALP)升高,4例甲状旁腺激素(PTH)升高,7例24 h尿钙(UCa)升高、2例降低,18例24 h尿磷(UP)降低、1例升高。X线片示11例骨质疏松、6例退变、6例骨折;全身骨扫描示18例全身多发局部骨代谢活跃灶;骨密度双能X线吸收测定法扫描(DEXA)示16例患侧髋关节骨质疏松、3例骨量减少,8例脊柱区域骨质疏松、11例骨量减少;MRI示11例双侧股骨头关节面下条形T1低信号,脂肪抑制序列呈高信号;8例胸腰椎体上、终板下条片状双低信号,脂肪抑制序列见周围骨质片状稍高信号,呈“夹心板”征。结论散发性HO以全身多部位不同程度骨痛和肌无力为主要临床表现,伴低血磷、低UP及高ALP等;影像学可见骨质密度异常、横向假骨折线、软骨下细微骨折及“夹心板”征等改变。

Objective To observe the clinical and image features of sporadic hypophosphatemic osteomalacia(HO).Methods Data of 19 patients with sporadic HO were retrospectively analyzed,and the clinical and image manifestations of HO were observed.Results The initial symptoms of 19 sporadic HO patients were all bone pain and myasthenia in various degrees.Hypophosphatemia was observed in all 19 cases,decreased blood calcium was found in 9 cases,increased alkaline phosphatase(ALP)and parathyroid hormone(PTH)was noticed each in 16 and 4 cases,respectively,while 24 h urinary calcium(UCa)increased in 7 cases and decreased in 2 cases,24 h urinary phosphorus(UP)decreased in 8 cases and increased in 1 case.X-rays films showed osteoporosis in 11 cases,degeneration and fractures each in 6 cases,respectively.Whole body bone scan showed multiple local bone metabolic active lesions in 18 cases.Dual energy X-ray absorptiometry(DEXA)showed 16 cases of hip joint osteoporosis and 3 of bone loss,8 of spinal region osteoporosis and 11 of bone loss.MR T1WI showed bilateral articular surface of the femoral head with low signals,with high signal on fat suppression sequence in 11 cases,double low signals in the upper and lower end plates of the thoracolumbar and lumbar vertebrae in 8 cases,with slightly high signal surrounding bone on fat suppression sequence presented as"sandwich plate"sign.Conclusion Sporadic HO mainly present as bone pain and myasthenia in various degrees of different parts of body,with biochemical characteristics such as low blood phosphorus,low UP and high ALP.The image features of HO included abnormal bone density,transverse false fracture line,subchondral fine fracture and"sandwich plate"sign.