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Zhonghua Nei Ke Za Zhi. 2019 Mar 1;58(3):237-240. doi: 10.3760/cma.j.issn.0578-1426.2019.03.019.

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

[Article in Chinese; Abstract available in Chinese from the publisher]

Author information

1
Department of Gastroenterology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
2
Department of Internal Medicine, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
3
Department of Rheumatology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
4
Department of Infectious Disease, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.

Abstract

in English, Chinese

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.

KEYWORDS:

Autoinflammatory disease; NOD2 gene; Periodic fever

[Indexed for MEDLINE]

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