抗合成酶综合征的临床案例:多症状且未被确诊
Nuno Oliveira1, Francisco San Martin2, Rosa Amorim2
1Internal Medicine, Unidade Local de Saude Do Oeste - Unidade Caldas da Rainha, Caldas da Rainha, PRT.
Cureus
|December 15, 2025
概括
抗合成酶综合征 (ASSD) 是一种罕见的自身免疫性疾病. 这一案例突出了其多样化的症状,诊断挑战和有效的免疫抑制治疗,用于诸如间歇性肺病和肌肉炎等疾病.
科学领域:
- 类风湿病学 类风湿病学
- 免疫学 免疫学 免疫学
- 肺部病理学 肺部病理学
背景情况:
- 抗合成酶综合征 (ASSD) 是一种罕见的自身免疫性疾病,其特征是对氨基酸-tRNA合成酶 (ARS) 的自身抗体.
- ASSD呈现出广泛的临床表现,包括肌肉炎,关节炎,雷诺现象,间歇性肺病 (ILD),发烧和特征性皮肤发现,如机械师的手.
- 由于各种各样的,有时重叠的症状,诊断可能具有挑战性.
研究的目的:
- 呈现一种罕见的抗合成酶综合征 (ASSD) 临床病例.
- 为了说明ASSD的诊断困难和不同的临床表现.
- 突出免疫抑制疗法在管理严重ASSD表现的有效性.
主要方法:
- 一个51岁的男性患者的病例报告,他入院时出现了暗示ASSD的症状.
- 诊断工作包括针对抗PL-7和抗核抗体 (ANA) 的血清检测.
- 临床评估揭示了肌肉炎,间歇性肺病 (ILD),体溶解和消耗性临床图像.
主要成果:
- 该患者的抗PL-7和ANA检测结果呈阳性,证实了ASSD的诊断.
- 用高剂量甲基prednisolone,然后用环胺的治疗导致显著的临床改善.
- 患者对开始的免疫抑制疗法反应良好.
结论:
- 这一案例凸显了ASSD的诊断复杂性,因为它具有异质的临床表现.
- 早期诊断和及时的免疫抑制治疗对于管理ASSD的严重表现至关重要.
- 突出罕见的自身免疫性疾病,如ASSD,为医学文献和临床实践提供了宝贵的见解.
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