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进行性假类风湿性发育不良:4例缓慢和快速进展病例的表现及早期康复计划的效果

Progressive pseudorheumotoid dysplasia: A presentation of four cases with slow and rapid progression and effects of early rehabilitation program.

作者信息

Giray Esra, Yağcı İlker, Elçioğlu Huriye Nursel

机构信息

Department of Physical Medicine and Rehabilitation, Marmara University School of Medicine, İstanbul, Turkey.

Division of Pediatrics Genetics, Department of Pediatrics, Marmara University School of Medicine, Istanbul, Turkey.

出版信息

Turk J Phys Med Rehabil. 2019 Jan 29;65(3):290-297. doi: 10.5606/tftrd.2019.2694. eCollection 2019 Sep.

Abstract

Progressive pseudorheumotoid dysplasia (PPD) is a rare hereditary musculoskeletal disorder which is usually misdiagnosed due to its clinical resemblance to juvenile idiopathic arthritis. It has a high incidence in the Middle East, Gulf States, and countries of Mediterranean basin. Herein, we present four cases of PPD from Turkey (two siblings pair from the same kindred who are far paternal cousins) showing different disease courses. The progression of disease was particularly aggressive in the male sibling who suffered from severe scoliosis with more crippling joint disease. These four cases of PPD support the clinical heterogeneity and variable expressivity of PPD. In this article, we draw attention to the effects of patient education and early rehabilitation which helped to slow progression of range of motion loss.

摘要

进行性假类风湿性发育不良(PPD)是一种罕见的遗传性肌肉骨骼疾病,由于其临床表现与幼年特发性关节炎相似,常被误诊。它在中东、海湾国家和地中海盆地国家的发病率较高。在此,我们报告了来自土耳其的4例PPD病例(来自同一亲属关系的两对兄弟姐妹,他们是远房堂兄弟),呈现出不同的病程。在患有严重脊柱侧弯和更严重致残性关节疾病的男性兄弟姐妹中,疾病进展尤为迅速。这4例PPD病例支持了PPD的临床异质性和可变表达性。在本文中,我们提请注意患者教育和早期康复的作用,它们有助于减缓运动范围丧失的进展。

相似文献

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Progressive pseudorheumatoid dysplasia: three cases in one family.进行性假类风湿性发育不良:一个家族中的三例病例
Joint Bone Spine. 2007 Jul;74(4):393-5. doi: 10.1016/j.jbspin.2006.11.014. Epub 2007 May 25.

本文引用的文献

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Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.两姐妹患有 RSPRY1 相关的脊椎干骺端发育不良。
Am J Med Genet A. 2024 Aug;194(8):e63601. doi: 10.1002/ajmg.a.63601. Epub 2024 Apr 2.

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