The 468th case: periodic fever, abdominal pain, small intestinal ulcers, NOD2 gene mutation / 中华内科杂志

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.