保加利亚首例肿瘤坏死因子受体相关自身炎症综合征（TRAPS）
First Case of TNF-Receptor-Associated Autoinflammatory Syndrome (TRAPS) in Bulgaria.
作者信息
Solakov Panayot T
机构信息
Department of Propedeutics of Internal Diseases, Faculty of Medicine, Medical University of Plovdiv, Plovdiv, Bulgaria
Clinic of Rheumatology, St George University Hospital, Medical University of Plovdiv, Plovdiv, Bulgaria
出版信息
Folia Med (Plovdiv). 2016 Sep 1;58(3):211-214. doi: 10.1515/folmed-2016-0025.
TRAPS is a very rare disease with an estimated prevalence of about one per million. We present a 53-year-old patient from Bulgaria. The clinical features of the disease are periodic fever, arthralgia, myalgia, rash, abdominal pain and hepatosplenomegaly. Laboratory studies yield leukocytosis, highly elevated levels of CRP, significantly high ESR. Secondary amyloidosis AA is determined. The genetic analysis found a heterozygous T>C nucleotide substance (c.250T>C) in exon 3 of TNFRSF1A gene which is associated with ТRAPS (MIM*191190). The presented case of genetic changes and clinical manifestations in the autoinflammatory syndrome TRAPS due to a mutation in the gene encoding the receptor for tumour necrosis factor alpha (TNFRSF1A) is the first documented case of the disease reported in Bulgaria.
肿瘤坏死因子受体相关周期性综合征（TRAPS）是一种非常罕见的疾病，估计患病率约为百万分之一。我们报告了一位来自保加利亚的53岁患者。该疾病的临床特征为周期性发热、关节痛、肌痛、皮疹、腹痛和肝脾肿大。实验室检查显示白细胞增多、CRP水平大幅升高、血沉显著加快。确诊为继发性AA型淀粉样变性。基因分析发现肿瘤坏死因子受体超家族成员1A（TNFRSF1A）基因第3外显子存在杂合性T>C核苷酸置换（c.250T>C），该置换与TRAPS（MIM*191190）相关。本文所呈现的因肿瘤坏死因子α受体（TNFRSF1A）编码基因突变导致的自身炎症综合征TRAPS的基因变化及临床表现病例，是保加利亚首例有文献记载的该疾病病例。
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