1.The 468th case: periodic fever, abdominal pain, small intestinal ulcers, NOD2 gene mutation
Dan CHEN ; Xinglin YANG ; Naze CHEN ; Di WU ; Baotong ZHOU ; Min SHEN ; Liming ZHU ; Ji LI ; Jiaming QIAN
Chinese Journal of Internal Medicine 2019;58(3):237-240
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.
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