坎普托达克提利-关节病-可克萨瓦拉-心炎 (CACP) 综合征
Sri Lakshmi Sathiyaseelan1, Kavita Krishna1, Deepti Agarwal1
1Clinical Immunology and Rheumatology, Bharati Vidyapeeth (Deemed to be University) Medical College, Pune, Maharashtra, India.
BMJ case reports
|July 2, 2024
概括
坎普托达克提 - 关节病 - 科克萨瓦拉 - 皮心炎综合征 (CACP) 是一种罕见的遗传性疾病. 全基因组测序发现了一个PRG4基因突变,证实了两个姐妹的CACP延迟诊断.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 类风湿病学 类风湿病学
背景情况:
- 坎普托达克提 - 关节病 - 科克萨 - 瓦拉 - 皮心炎综合征 (CACP) 是一种罕见的自体逆向性疾病.
- 染色体1q25-q31上的蛋白质糖4 (PRG4) 基因的突变是已知的CACP的原因.
- 早期诊断对于管理CACP症状和改善患者治疗结果至关重要.
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