渐进性伪风湿性发育不良症被错误诊断为青少年异常性关节炎:晚期关节破坏
Wassima Ridah1, Soukaina Zaher1, Ahlam Ajerouassi1
1Department of Rheumatology, Ibn Rochd University Hospital Center, Faculty of Medicine and Pharmacy of Casablanca, Casablanca, MAR.
Cureus
|October 20, 2025
概括
渐进性伪风湿性发育不良症 (PPRD) 是一种罕见的疾病,经常被误认为是青少年异常性关节炎 (JIA). 早期诊断至关重要,以防止不可逆转的关节损伤,避免不必要的免疫抑制治疗.
科学领域:
- 类风湿病学 类风湿病学
- 医学遗传学 医学遗传学
背景情况:
- 渐进性伪风湿性发育不良症 (PPRD) 是一种罕见的自体逆向性关节病.
- 它经常被误诊为青少年异常性关节炎 (JIA).
研究的目的:
- 突出与PPRD相关的诊断挑战.
- 强调早期和准确诊断的重要性,以防止关节的破坏.
主要方法:
- 一个52岁的女性的病例介绍,她有45年的多关节痛病史.
- 对临床检查,放射性发现和实验室测试的审查.
- 对疑似JIA的长期治疗进行分析.
主要成果:
- 这名患者被误诊为血清阴性多关节性JIA,并接受了二十年多的甲状腺酸治疗,没有临床改善.
- 放射图显示了PPRD特征的特征,包括关节形和脊椎骨折.
- 实验室测试显示正常的炎症标志物和负的自身免疫抗体.
结论:
- 晚期PRD带来了重大的诊断挑战,往往导致诊断延迟和不可逆转的关节损伤.
- 在早期发病的多关节炎中,怀疑PPRD具有非炎症特征和负面的免疫学测试至关重要.
- 及时诊断可以防止不必要的免疫抑制疗法,并指导适当的支持性管理.
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