临床病例讨论第468例——周期性发热、腹痛、小肠浅溃疡、NOD2基因突变

The 468th case: periodic fever, abdominal pain, small intestinal ulcers, NOD2 gene mutation

发热、腹痛为众多胃肠道受累疾病的常见表现,新近认识的自身炎症性疾病为周期性发热患者的鉴别诊断之一。本例患者48岁女性,因反复发热伴左上腹痛9年,加重3个月入院。发热时伴血炎症指标升高,发热间期炎症指标恢复正常。每1~4个月发作1次,应用抗菌药物治疗无效。最终全外显子测序回报NOD2基因q902k杂合突变,诊断得以明确,考虑自身炎症性疾病,经糖皮质激素及雷公藤治疗后患者病情缓解。

Fever and abdominal pain are common symptoms and could be main manifestations in patients with autoinflammatory diseases. A 48-year-old female patient was admitted with recurrent fever and abdominal pain for 9 years. Serum level of inflammatory markers synchronously fluctuated with fever, and returned to normal when fever subsided. The periodic episodes of fever occurred every 1 to 4 months and failed to respond to empirical antibiotics. Whole exome sequencing showed heterozygous mutation of NOD2 gene q902k, leading to the final diagnosis of autoinflammatory disease. Corticosteroid and tripterygiumglycosides were effective for the disease remission.