北京大学学报(医学版) ›› 2018, Vol. 50 ›› Issue (6): 1112-1116. doi: 10.19723/j.issn.1671-167X.2018.06.031

• 病例报告 • 上一篇    下一篇

误诊为强直性脊柱炎的进行性假性类风湿发育不良1例

刘蕊,翟佳羽,刘湘源,姚中强()   

  1. 北京大学第三医院风湿免疫科,北京 100191
  • 收稿日期:2018-07-26 出版日期:2018-12-18 发布日期:2018-12-18
  • 通讯作者: 姚中强 E-mail:yaozhongqiang@sina.com

Progressive pseudorheumatoid dysplasia misdiagnosed asankylosing spondylitis: a case report

Rui LIU,Jia-yu ZHAI,Xiang-yuan LIU,Zhong-qiang YAO()   

  1. Department of Rheumatology and Immunology, Peking University Third Hospital, Beijing 100191, China
  • Received:2018-07-26 Online:2018-12-18 Published:2018-12-18
  • Contact: Zhong-qiang YAO E-mail:yaozhongqiang@sina.com

摘要:

关键词: 进行性假性类风湿发育不良, WISP3基因, 突变

Abstract:

In this study, we reported a case of progressive pseudorheumatoid dysplasia in Peking University Third Hospital. A 56-year-old male patient presented with hip joint pain for more than 40 years and multiple joints pain with limitation of movements of these joints for 28 years. This patient suffered from joint pain and impaired range of motion of the hip, knee, elbow and shoulder gradually, associated with difficulty in walking and inability to take care of himself. He was diagnosed with “femoral head necrosis” or “ankylosing spondylitis” in local hospitals, but the treatment of nonsteroidal antiinflammatory drugs (NSAIDs) and sulfasalazine was not effective. Up to the age of 14, the patient displayed normal physical development, with the highest height was about 158 cm, according to the patient recall. However, his height was 153 cm at present. There was no history of similar illness in any family member. Physical examinations descried limitation of movement of almost all joints. Enlargement and flexion deformity of the proximal interphalangeal (PIP) joints of the hands resulted in the claw hand appearance. Limited abduction and internal and external rotation of the shoulder and hip could be find. He had normal laboratory findings for blood routine test, biochemical indexes and acute phase reactants such as C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). Furthermore, HLA-B27 and autoimmune antibodies such as rheumatoid factor (RF), anti-cyclic citrullinated peptide (anti-CCP) antibody and antinuclear antibody (ANA) were all negative. X-ray of the hip showed loss of the joint space and irregularities of the femoral head, both femoral head were flattened, it could be see hyperplasia, osteophytes, bilateral femoral neck thicken, neck dry angle turned smaller. The radiological findings of the spinal vertebra indicated kyphosis deformity, narrowing of the intervertebral discs, vertebral syndesmophytes and flattening of the vertebra. However, there was no clues of bone marrow edema in the lumbar MRI. At last, genetic testing for the Wnt1-inducible signaling pathway protein 3 (WISP3) gene was done and indicated compound heterozygous mutations: 756C>G and c.866dupA. These two mutations were derived from the patient’s mother and father (the patient’s parents each had a heterozygous mutation). Two exons of the WISP3 gene had nucleotide changes leading to amino acid mutations. According to the patient’s history, symptoms, physical examinations, radiological findings and genetic testing, the final definitive diagnosis was progressive pseudorheumatic dysplasia.

Key words: Progressive pseudorheumatoid dysplasia (PPD), WISP3 gene, Mutation

中图分类号: 

  • R596

图1

手(A)、足(B)X线片示多关节退行性变,可见跟骨变短(白色箭头),距骨变扁(黑色箭头)"

图2

双髋关节对位欠佳,关节间隙狭窄,关节面、髋臼缘及股骨大转子骨质增生硬化,可见骨赘形成,关节面下可见囊变影,双侧股骨头变扁,密度不均匀,可见斑片状高密度及囊变影,双侧股骨颈增粗,颈干角变小"

图3

脊柱轻度侧弯(箭头),部分椎间隙狭窄,椎体缘及 小关节骨质增生硬化,普遍呈扁平椎"

图4

骶髂关节X线片示退行性改变"

图5

腰椎MRI示多发椎体变扁(箭头),未见椎间盘病变及骨髓水肿"

表1

中国PPD患者已知WISP3基因突变位点汇总"

No. Location Nucleotide change Amino acid change References
1 Exon 2 c.105dupT p.Gly36fs*10 [14]
2 Exon 2 c.208_209insA - [10]
3 Exon 2 c.136C>T p.Gln46* [7,10,13]
4 Exon 3 c.342T>G p.Cys114Trp [10,12-15]
5 Exon 3 c.342G>A p.Cys114Try [7]
6 Exon 4 c.624delA p.Lys208fs*24 [14]
7 Exon 4 c.624_625insA p.Cys209fs*229 [10]
8 Exon 4 c.667T>G p.Cys223Gly [10,16]
9 Exon 4 c.679dupA p.Cys227Leufs*21 [15]
10 Exon 4 c.716_722delAAATGAG p.Glu239fs*16 [12]
11 Exon 4 c.721T>G p.Cys241Gly [15]
12 Exon 4 c.729_735delGAGAAAA p.Glu243fs*255 [10,13]
13 Exon 4 c.756C>A p.Cys252* [9,16]
14 Exon 5 c.840delT p.Phe280Leufs*33 [11]
15 Exon 5 c.866_867insA p.Gln289fs*31 [10,12]
16 Exon 5 c.866dupA p.Ser290Glufs*13 [13]
17 Exon 5 c.857C>G p.Ser286* [13]
18 Exon 5 c.1000T>C p.Ser334Pro [11-12]
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