Herry I, Schaison F, Martin A, Christoforov B, Boissonnas A
Service de Médecine Interne, Hôpital Cochin, Paris.
Rev Pneumol Clin. 1999 Mar;55(1):39-41.
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.
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。