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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 investigate the clinical and imaging findings of progressive diaphyseal dysplasia (PDD) and to improve the diagnosis and treatment of the disease. Methods The clinical data of 2 PDD patients were retrospectively analyzed and discussed in the literature. Results Both of the two cases showed the main symptom of swinging with “gait” and gait, accompanied by extremity soreness and muscular atrophy of lower extremity. X-ray characteristic of the systemic tubular cortical symmetry thickening; laboratory examination of hemoglobin decreased erythrocyte sedimentation rate, elevated serum alkaline phosphatase; limb pain given general painkillers, non-steroidal anti-inflammatory drugs ineffective. Conclusion PDD is an autosomal dominant genetic disease, rare, clinically diagnosed and easily confused with other diseases of cortical bone thickening, the treatment is still inexperienced.