Suppr超能文献

[一名80岁男性的复发性双侧胸膜炎]

[Recurrent bilateral pleurisy in an 80-year-old man].

作者信息

Herry I, Schaison F, Martin A, Christoforov B, Boissonnas A

机构信息

Service de Médecine Interne, Hôpital Cochin, Paris.

出版信息

Rev Pneumol Clin. 1999 Mar;55(1):39-41.

Abstract

An 80-year-old man was admitted with recurrent asphyxiating pleurisy, first attributed to heart failure. During the recurrent episodes, the patient presented fever, signs of inflammation, no signs of heart failure, and subnormal cardiac function, prompting further investigations which disclosed that the patient was a homozygous carrier of the severe type of periodic disease mutation. The patient's age at symptom onset and the clinical features of this case of periodic disease are exceptional. These points emphasize the usefulness of available genetic tests in difficult diagnostic cases. It also reflects current difficulties in trying to establish correlations between genotype and phenotype in periodic disease.

摘要

一名80岁男性因复发性窒息性胸膜炎入院,最初被归因于心力衰竭。在复发期间,患者出现发热、炎症迹象、无心力衰竭迹象且心功能低于正常水平,这促使进一步检查,结果发现该患者是严重型周期性疾病突变的纯合携带者。该患者出现症状时的年龄以及这例周期性疾病的临床特征都很罕见。这些要点强调了现有基因检测在疑难诊断病例中的有用性。这也反映了目前在试图建立周期性疾病基因型与表型之间关联时所面临的困难。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验