Abstract：
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.
摘要：
Camptodtyly-关节病-coxavara-心包炎综合征（CACP）是一种罕见的常染色体隐性遗传疾病，由染色体1q25-q31上的蛋白聚糖4（PRG4）基因突变引起。我们面临两姐妹的困境和诊断延误。姐姐心包积液伴缩窄性心包炎，接受了心包切除术，并接受了疑似肺结核的经验性治疗。两年后,她出现了双侧膝盖肿胀，活动受限。同时,她的妹妹还出现了双侧膝盖肿胀，这引起了对遗传疾病的怀疑。全基因组测序显示纯合PRG4突变提示CACP综合征。
