Dinc Ayhan, Erdem Hakan, Rowczenio Dorota, Simsek Ismail, Pay Salih, Bahce Muhterem, Lachmann Helen
Department of Medicine, Division of Rheumatology, Gulhane Military School of Medicine, Ankara, Turkey.
J Nephrol. 2005 Sep-Oct;18(5):626-9.
We investigated the presence of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family with recurrent fever and systemic reactive (AA) amyloidosis. A missense mutation in exon 3 of the TNFRSF1A gene, resulting in an amino acid substitution Phe60Leu (F60L) was found in the proband and his father. These are the first confirmed TRAPS cases in the Turkish population. This family highlights the importance of onsidering all the causes of inherited fevers and performing thorough clinical and genetic investigations to secure a diagnosis, even in populations in which familial Mediterranean fever (FMF) is highly prevalent.
我们对一个患有反复发热和系统性反应性（AA）淀粉样变性的土耳其家庭进行了肿瘤坏死因子受体相关周期性综合征（TRAPS）的检测。在先证者及其父亲中发现了TNFRSF1A基因第3外显子的一个错义突变，导致氨基酸替换Phe60Leu（F60L）。这些是土耳其人群中首例确诊的TRAPS病例。这个家庭凸显了即便在家族性地中海热（FMF）高度流行的人群中，考虑所有遗传性发热病因并进行全面临床和基因检测以确保诊断的重要性。
