进行性假性类风湿发育不良症的临床分析

Clinical analysis on progressive pseudorheumatoid dysplasia

目的提高对进行性假性类风湿发育不良症的认识。方法对2例进行性假性类风湿发育不良症进行分析，并通过文献复习对本病的临床表现及影像学改变进行分析总结。结果2例患者均为幼年起病，以双手近端指间关节肿胀为突出表现，逐渐出现外周大小关节进行性受累，并伴有脊柱的异常。结合文献报道的51例分析发现，本病男女患病率相仿，发病年龄多为1～10岁，其中77％为3～5岁。外周大小关节均可受累，依次累及双手小关节、髋、膝、踝、腕、肩等，早发骨关节炎改变是致残的主要原因，38％的患者脊柱受累可出现短躯干畸形。影像学特点均表现为普遍性扁平椎并椎体终板不规则、骨骺增大、继发性退行性变和关节周围骨质疏松。本病临床症状与类风湿关节炎相似，但不同的是无滑膜炎和其他炎性改变、X线无破坏性改变。目前无特异的治疗方法。结论进行性假性类风湿发育不良症是一种少见的常染色体隐性遗传性疾病，临床特点及典型的影像学表现有助于诊断。

Objective To improve the understanding of progressive pseudorheumatoid dysplasia （PPD）. Methods The clinical and roentgeno graphic features of two patients with PPD diagnosed in our department were analysed, and the related literature was reviewed. Re- suits The patients first experienced the osseous swelling in phalangeal joints of both hands in childhood, and progressively almost all joints were involved. The spine was also involved. By analyzing the clinical information of 53 cases, it was found that PPD involved both male and female similarly. The ages at onset of first symptoms, were from 1 to 10 years, and in seventy seven percent of patients the ages were 3 years to 5 years. Clinical features included progressive involvement of the major joints, including small joints of the hands, hips, knees, ankles, wrists and shoulders. Premature osteoarthritis developed in early adult life, and it was the major reason of disability. 38% of patients were short in stature. The roentgenographic features consisted of generalized platyspondyla with irregular delineation of the endplates of the vertebral bodies, varying degrees of epiphyseal involvement with eniargemem of the large joints, metacarpal heads and phalanges, secondary degenerative arthritis with periarticular osteoporosis. The symptoms of PPD were similar to those of rheumatoid arthritis （RA）, but differed from it by the absence of synovitis and other inflammatory changes, and radiographically by the absence of destructive changes and the presence of dysplastic bone changes. There was no specific treatment for cure. Conclusion PPD is a rare autosomal recessive skeletal disorder associated with WISP3 gene mutations. Its clinical features and typical roentgenographic features are helpful to the diagnosis.