Síndrome camptodactilia-artropatia-coxa-vara-pericardite: revisão bibliográfica

Authors

  • Daniela Rendon Corrales Universidade do Estado do Rio de Janeiro, Hospital Universitário Pedro Ernesto
  • Wagner Thales Silva Universidade do Estado do Rio de Janeiro, Hospital Universitário Pedro Ernesto

DOI:

https://doi.org/10.11606/issn.2317-0190.v31iSupl.1a225168

Keywords:

Joint Diseases, Rare Diseases, Coxa Vara

Abstract

A síndrome camptodactilia-artropatia-coxa-vara-pericardite (CACP) é uma doença ocasionada pelas mutações no gene proteoglicano 4 (PRG4), codificador da glicoproteína Lubricina. Esta substância tem função de lufricar as estruturas articulares e, assim, evitar a deterioração progressiva devido seu papel condoprotetor.

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References

Faivre L, Prieur AM, Le Merrer M, Hayem F, Penet C, Woo P, et al. Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Am J Med Genet. 2000;95(3):233-6. Doi: https://doi.org/10.1002/1096-8628(20001127)95:3%3C233::AID-AJMG9%3E3.0.CO;2-3

Tumminelli C, Pastore S, Taddio A. Chronic limping in childhood, what else other than juvenile idiopathic arthritis: a case series. Pediatr Rheumatol Online J. 2023;21(1):142. Doi: https://doi.org/10.1186/s12969-023-00927-3

Jay GD, Waller KA. The biology of lubricin: near frictionless joint motion. Matrix Biol. 2014;39:17-24. Doi: https://doi.org/10.1016/j.matbio.2014.08.008

Johnson N, Chaudhary H, Kumrah R, Pilania RK, Sharma Y, Sharma A, et al. Syndrome of progressive deforming non-inflammatory arthritis of childhood: two patients of camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Rheumatol Int. 2021;41(10):1875-1882. Doi: https://doi.org/10.1007/s00296-020-04688-0

Maniscalco V, Pizzetti C, Marrani E, Perrone A, Maccora I, Pagnini I, et al. Pseudo-rheumatic manifestations of limping: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome: Single case report and review of the literature. Front Pediatr. 2022;10:981938. Doi: https://doi.org/10.3389/fped.2022.981938

Kakkar RM, Soneji S, Badhe RR, Desai SB. Camptodactyly-arthropathy-coxa vara-pericarditis syndrome: important differential for juvenile idiopathic arthritis. J Clin Imaging Sci. 2013;3:24. Doi: https://doi.org/10.4103/2156-7514.114211

Kisla Ekinci RM, Balci S, Dogan H, Ceylaner S, Varan C, Erdem S, et al. Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single- Center Experience from Southern Turkey. Mol Syndromol. 2021;12(2):112-117. Doi: https://doi.org/10.1159/000513111

Vutukuru R, Reddy KK. Pathognomonic acetabular cysts in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. Indian J Med Res. 2016;143(6):834-835. Doi: https://doi.org/10.4103/0971-5916.192082

Published

2024-04-30

Issue

Section

Extended Abstracts

How to Cite

1.
Corrales DR, Silva WT. Síndrome camptodactilia-artropatia-coxa-vara-pericardite: revisão bibliográfica. Acta Fisiátr. [Internet]. 2024 Apr. 30 [cited 2025 Mar. 9];31(Supl.1):S92-S93. Available from: https://periodicos.usp.br/actafisiatrica/article/view/225168