在职业运动员中患有异常性高氨酸性综合征
Sarah Shidid1, Pakinam Mekki2, Tamar A Smith-Norowitz3
1Department of Internal Medicine, Montefiore Health System, Bronx, NY, USA sarah.shidid@gmail.com.
Annals of clinical and laboratory science
|March 21, 2024
概括
这项案例研究强调了一名年轻的运动员被诊断出患有罕见的疾病 - - 过敏氨基酸性综合征 (HES). 咳和发烧等早期症状可以表明HES,强调需要及时诊断.
科学领域:
- 内部医学 内部医学
- 心脏病学 心脏病学
- 肺部病理学 肺部病理学
背景情况:
- 过敏氨酸性综合征 (HES) 是一种罕见的血液学疾病,其特征是持续的氨酸性氨酸性.
- 高血压可以影响多个器官系统,导致严重的发病率和死亡率,如果不及时诊断和治疗.
- 运动员可能出现非典型的症状,使得像HES这样的全身性疾病的诊断变得复杂.
研究的目的:
- 在一个年轻的,其他健康的运动员中报告一种高氨酸性综合征 (HES) 病例.
- 为了说明HES在运动员中的诊断挑战和临床表现.
- 强调识别HES早期症状的重要性,以便及时进行医疗干预.
主要方法:
- 一个25岁的女性运动员的病例报告显示,她有两个月的呼吸系统症状史.
- 临床检查显示了发烧,心跳缓慢,白细胞病以及显著的好色素.
- 评估了心脏生物标志物,包括热素和肌酸激酶 (CK),以评估器官参与.
主要成果:
- 患者呈现出逐渐增长的干咳,喘息,运动性呼吸障碍和胸痛.
- 身体检查发现包括发烧 (101.6°F),心动减速 (120bpm),白细胞症 (35.9x10^9/L) 和明显的乙素 (24,000/μL).
- 升高的托罗邦素水平 (~1.5 ng/mL) 和肌酸激酶 (CK) (203 U/L) 表示潜在的心脏参与.
结论:
- 临床表现和实验室发现强烈支持高氨酸性综合征 (HES) 的诊断.
- HES是一种罕见且在诊断上具有挑战性的疾病.
- 早期识别疲劳,咳,喘息和发烧等症状对于及时诊断HES至关重要.
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