The 468th case: periodic fever, abdominal pain, small intestinal ulcers, NOD2 gene mutation
10.3760/cma.j.issn.0578-1426.2019.03.019
- VernacularTitle:第468例——周期性发热、腹痛、小肠浅溃疡、NOD2基因突变
- Author:
Dan CHEN
1
;
Xinglin YANG
;
Naze CHEN
;
Di WU
;
Baotong ZHOU
;
Min SHEN
;
Liming ZHU
;
Ji LI
;
Jiaming QIAN
Author Information
1. 中国医学科学院 北京协和医学院 北京协和医院消化内科 100730
- Keywords:
Periodic fever;
Autoinflammatory disease;
NOD2 gene
- From:
Chinese Journal of Internal Medicine
2019;58(3):237-240
- CountryChina
- Language:Chinese
-
Abstract:
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.
