Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.
Humans
Female
Coxa Vara
/ diagnosis
Proteoglycans
/ genetics
Hand Deformities, Congenital
/ genetics
Arthropathy, Neurogenic
/ genetics
Pericardial Effusion
/ diagnosis
Upper Extremity Deformities, Congenital
/ genetics
Pericarditis, Constrictive
/ diagnosis
Lower Extremity Deformities, Congenital
/ genetics
Pericardiectomy
Mutation
Diagnosis, Differential
Synovitis
Congenital disorders
Connective tissue disease
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
01 Jul 2024
01 Jul 2024
Historique:
medline:
3
7
2024
pubmed:
3
7
2024
entrez:
2
7
2024
Statut:
epublish
Résumé
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare autosomal recessive disease caused by mutation in proteoglycan 4 (PRG4) gene on chromosome 1q25-q31. We faced a dilemma and delay in diagnosis in two sisters. The elder sister had pericardial effusion with constrictive pericarditis, underwent pericardiectomy and received empirical treatment for suspected tuberculosis. After 2 years, she developed bilateral knee swelling with restriction of movement. At the same time, her younger sister also presented with bilateral knee swelling which aroused the suspicion of genetic disease. The whole-genome sequencing revealed homozygous PRG4 mutation suggestive of CACP syndrome.
Identifiants
pubmed: 38955384
pii: 17/7/e260146
doi: 10.1136/bcr-2024-260146
pii:
doi:
Substances chimiques
Proteoglycans
0
PRG4 protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.