儿童与成人进行性骨干发育不全的诊断与治疗(附2例报告并文献复习)  

The Diagnosis and Treatment of Progressive Diaphyseal Dysplasia(Report of 2 Case and Literature Review)

作　　者：韦积华[1] 韦庆军[1] 刘军廷[1] 肖仕辉[1] 李伟岸[1] 

机构地区：[1]广西医科大学第一附属医院创伤骨科手外科,南宁530021

出　　处：《临床放射学杂志》2012年第6期900-903,共4页Journal of Clinical Radiology

摘　　要：目的探讨进行性骨干发育不全(progressive diaphyseal dysplasia,PDD)的临床及影像学表现,提高对该病的诊断与治疗水平。方法回顾性分析2例PDD患者的临床资料,并结合文献进行讨论。结果 2例均是以步态呈"鸭步"状摇摆为主要症状,伴四肢酸痛,并有下肢肌肉萎缩。X线特征性表现为全身管状骨皮质对称性增厚;实验室检查血红蛋白下降、血沉加快、血清碱性磷酸酶升高;四肢酸痛给予一般止痛药、非甾体类抗炎药治疗无效。结论 PDD是一种常染色体显性遗传性疾病,较罕见,临床确诊率低,易与其他骨皮质增厚疾病混淆,治疗尚缺乏经验。Objective To improve the diagnosis and treatment for progressive diaphyseal dysplasia. Methods Clinical data of 2 patients with progressive diaphyseal dysplasia were analyzed retrospectively. Results Two patients had a waddling gait , bilateral lower legs＇ pain , and muscle weakness. Classical radiological findings included both endosteal and subperiosteal cortical thickening. Laboratory findings included Hb decreased, alkaline phosphatase increased and erythrocyte sedimentation rate increased. Administration of analgesics and/or nonsteroidal anti inflammatory drugs （NSAIDs） achieved no efficient response. Conclusion Progressive diaphyseal dyplasia is a rare autosomal dominant craniotubular. It is difficult to differentiate from other diaphyseal dysplasia, and there was no enough clinical experience of therapy.

关 键 词：进行性骨干发育不全 临床表现 影像学特征 诊断 

分 类 号：R681.1[医药卫生—骨科学] R726.8[医药卫生—外科学]