Overlap Syndrome between Familial Mediterranean Fever and Tumor Necrosis Factor Receptor-Associated Periodic Syndrome in a Lupus Patient
スポンサーリンク
概要
- 論文の詳細を見る
Autoinflammatory diseases represent an expanding spectrum of genetic and non-genetic inflammatory diseases characterized by recurrent episodes of fever and systemic inflammation, affecting joints, skin and serosal surfaces. Familial Mediterranean fever (FMF) is the most common autosomal recessive hereditary autoinflammatory disease. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant hereditary autoinflammatory disease. They share some clinical manifestations such as a periodic fever and skin rash. We present here the association of FMF with TRAPS in a systemic lupus erythematosus (SLE) patient. A 54-year-old SLE patient with recurrent attacks of fever, arthritis, and skin rashes was referred to our hospital. She had been diagnosed with lupus nephritis at 19 years old. Her lupus nephritis was controlled by steroid treatments; however, since childhood she has suffered from recurrent episodes of periodic fever, abdominal pain, arthritis, and erythematous skin rashes. An initial diagnosis of FMF was suspected based on the genetic analysis, showing the compound heterozygous L110P/E148Q mutations in the MEFV gene that is responsible for FMF. Her symptoms responded to colchicine, but the febrile attacks were not completely resolved. Therefore, genetic testing for TRAPS was performed. The results revealed a heterozygous T61I mutation in the TNFRSF1A gene that encodes tumor necrosis factor-α receptor and is responsible for TRAPS. The patient was diagnosed with overlapping FMF and TRAPS, in addition to SLE. This is the first report of SLE associated with both FMF and TRAPS.
- 東北ジャーナル刊行会の論文
東北ジャーナル刊行会 | 論文
- Effects of Ketamine and Propofol on the Ratio of Interleukin-6 to Interleukin-10 during Endotoxemia in Rats
- α2-Adrenergic Modulation of Glucagon and Insulin Secretions in Sheep
- Molecular Analysis of the Pathogenesis of Autoimmune Insulitis in NOD Mice
- Effects of Thymoxamine in Ouabain-Induced Arrhythmias in Dogs
- T Cell Hypofunctions and Glomerular Sclerotic and Angiogenic Changes Found Both in Rats Received Unilateral Nephrectomy plus Transplantation of Syngeneic Mesenteric Lymph Nodes and in Rats Received Unilateral Nephrectomy plus Splenectomy