Diagnosis and Management of a Young Girl With Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) Linked to a Novel Mutation

被引：0
作者：
Klinaki, Eleni [1 ]
Nezos, Adrianos [2 ]
Tzioufas, Athanasios G. [2 ]
Tsolia, Maria N. [3 ]
Maritsi, Despoina N. [1 ]
机构：
[1] Natl & Kapodistrian Univ Athens, P&A Kyriakou Childrens Hosp, Med Sch, Rheumatol, Athens, Greece
[2] Natl & Kapodistrian Univ Athens, Med Sch, Pathophysiol, Athens, Greece
[3] Natl & Kapodistrian Univ Athens, P&A Kyriakou Childrens Hosp, Med Sch, Infect Dis, Athens, Greece
来源：
CUREUS JOURNAL OF MEDICAL SCIENCE | 2020年 / 12卷 / 10期
关键词：
autoinflammatory diseases (aids); tumor necrosis factor receptor-associated periodic syndrome (traps); tnfrsf1a mutations; clinical phenotype; interleukin-1 beta inhibitor; TNF RECEPTOR; RECURRENT;
D O I：
10.7759/cureus.10766
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
A nine-year-old girl with a two-month history of fever and generalized malaise, along with intermittent abdominal pain, immigrant myalgia, throat pain, anorexia, and long-standing failure to thrive, was admitted to our department for further investigation and treatment. Detailed medical history revealed recurrent inflammation attacks from a very young age and a heavily burdened family history. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) was highly suspected. Genetic screening was performed and several members of the family were found to be carriers of C73Y mutation in exon 3, which is a novel tumor necrosis factor superfamily receptor 1A (TNFRSF1A) mutation. The girl was treated with an interleukin-1 beta inhibitor, canakinumab, which induced immediate and complete remission of disease that interestingly lasted for a long period even after medication discontinuation.
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