Abstract:
:Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is characterized by recurrent episodes of inflammation with fever, abdominal pain, chest pain, rash, myalgia, arthralgia, conjunctivitis, and periorbital edema. This condition is a rare autosomal dominant disease that is strongly associated with heterozygous mutations in the tumor necrosis factor (TNF) receptor super family 1A (TNFRSF1A) gene. This condition is believed to be more common in Western countries than in Asian countries, and the AA amyloidosis rate for European countries is estimated to be 10%. Herein, we report the case of a 14-year-old girl with recurrent fever and arthralgia with inflammatory marker elevation for 10 years. After extensive investigation of the infectious etiology with negative results and similar phenomenon observed within her family, the diagnosis of TRAPS was made based on next-generation sequencing, which revealed a T50M mutation; she was also sensitive to corticosteroids. Although none of our TRAPS patients developed AA amyloidosis, we suggest the continual monitoring of urinalysis results and serum amyloid A concentrations during long-term follow-up. Moreover, we also reviewed the related literature and found no Asian patients who had developed AA amyloidosis.
journal_name
Clin Rheumatoljournal_title
Clinical rheumatologyauthors
Chen Y,Huang X,Zheng S,Zhu Z,Yang W,Liu Jdoi
10.1007/s10067-018-4023-4subject
Has Abstractpub_date
2018-05-01 00:00:00pages
1433-1438issue
5eissn
0770-3198issn
1434-9949pii
10.1007/s10067-018-4023-4journal_volume
37pub_type
杂志文章,评审abstract::Inflammation of one or both sacroiliac joints is a characteristic feature of patients with spondyloarthropathies (SpA). Sacroiliitis often leads to inflammatory back pain (IBP). IBP and asymmetric peripheral arthritis of the lower limbs are the main clinical symptoms and criteria for classification and diagnosis of Sp...
journal_title:Clinical rheumatology
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journal_title:Clinical rheumatology
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更新日期:2010-11-01 00:00:00
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pub_type: 杂志文章
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更新日期:1992-09-01 00:00:00
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pub_type: 杂志文章,随机对照试验
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更新日期:2008-07-01 00:00:00
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pub_type: 杂志文章
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pub_type: 杂志文章,meta分析
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更新日期:2018-08-01 00:00:00
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pub_type: 杂志文章,随机对照试验
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pub_type: 已发布勘误
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