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Dergiler / The Journal of Pediatric Research / 2018 / Cilt: 5 - Sayı: 2

Progressive Pseudorheumatoid Condrodysplasia, an Unusual Cause of Joint Swelling and Stiffness

ESRA KILIÇ
Sayfa
98–99
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

Early recognitionand appropriate genetic counselling is essential in order to avoid unnecessary treatment and further recurrence.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Progressive pseudorheumatoid condrodysplasia (PPRC) is a rare autosomal recessive skeletal dysplasia characterized by joint swelling, stiffness,generalized progressive joint contractures and progressive arthropathy with the negative laboratory markers of juvenile idiopathic arthritis.
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Temel Bulgular & Veri:It is causedby mutations of the Wnt1-inducible signalling pathway protein 3 (WISP3) gene located on chromosome 6q22, encoding a cysteine-rich connectivetissue growth factor, which preserves cartilage integrity in chondrocytes.
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Sonuç & Katkı:Early recognitionand appropriate genetic counselling is essential in order to avoid unnecessary treatment and further recurrence.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

Progressive pseudorheumatoid condrodysplasia (PPRC) is a rare autosomal recessive skeletal dysplasia characterized by joint swelling, stiffness,generalized progressive joint contractures and progressive arthropathy with the negative laboratory markers of juvenile idiopathic arthritis. It is causedby mutations of the Wnt1-inducible signalling pathway protein 3 (WISP3) gene located on chromosome 6q22, encoding a cysteine-rich connectivetissue growth factor, which preserves cartilage integrity in chondrocytes. Here, we describe two new patients from same consanguineous family.The diagnosis was made by clinical and radiologic findings, molecular analysis of the WISP3 gene revealed a c.793-794 delTG (p.C265Lfs*31) mutation.Although life expectancy is normal, the prognosis of PPRC can be very poor, most patients are wheelchair-bound from an early age. Early recognitionand appropriate genetic counselling is essential in order to avoid unnecessary treatment and further recurrence.

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Bu Makaleye Atıf Yap

KILIÇ, E. (2018). Progressive Pseudorheumatoid Condrodysplasia, an Unusual Cause of Joint Swelling and Stiffness. The Journal of Pediatric Research, Cilt: 5 - Sayı: 2, 98–99. https://ajindex.com/articles/362799

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Kaynakça (5)

  1. Spranger J, Albert C, Schilling F, Bartsocas C, Stöss H. Progressive pseudorheumatoid arthritis of childhood (PPAC). A hereditary disorder simulating rheumatoid arthritis. Eur J Pediatr 1983;140:34-40.
  2. Hurvitz JR, Suwairi WM, Van Hul W, et al. Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat Genet 1999;23:94-8.
  3. Nakamura Y, Weidinger G, Liang JO, et al. The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling. J Clin Invest 2007;117:3075-86.
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  5. Garcia Segarra N, Mittaz L, Campos-Xavier AB, et al. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet 2012;160:217-29.