进行性假性类风湿发育不良症报道并文献复习

Progressive pseudorheumatoid dysplasia：report of pedigree and literature review

目的 提高对进行性假性类风湿发育不良症的认识.方法 分析家系进行性假性类风湿发育不良症2例的临床、X线特征,并复习相关文献.结果 2例患者为兄妹,发病年龄2～14岁,以下肢关节起病,主要表现脊柱畸形、广泛性外周关节受累及进行性关节畸形.x线提示椎体呈扁平椎样改变,双手指骨、掌骨及外周腕、膝等外周各关节干骺端膨大,关节面硬化.结论 进行性假性类风湿发育不良症足一种少见的常染色体隐性遗传病,结合临床特点、典型影像学改变和（或）WISP3基因突变分析可明确诊断.临床上需与幼年特发性关节炎进行鉴别.

Objective To improve the understanding of progressive pseudmheumatoid dysplasia （PPD）.Methods The clinical and radiographic features of two patients with PPD in our department were analyzed,and the related literature was reviewed.Results Two patients（brother and sister）from one family were reviewed.The ages in time of onset first symptoms onset were 2 and 14 years respectively.All patients had deformity of spine,extensive involvement of peripheral joints and progressive deformity of joints.The radiographs revealed typical changes of PPD including platyspondyly,severe osteopenia and dysplastic bone changes.Conclusions PPD is an inherited skeletal dysplasia with autosomal recessive transmission.Its clinical features.including typical rideographie features and analysis of WISP3 gene mutations,are helpful to the diagnosis.In clinical practice,PPD should be in the differential diagnosis of juvenile idiopathic arthritis.