| Co-Investigator(Kenkyū-buntansha) |
EGUCHI Katsumi Nagasaki University, Graduate School of Biomedical Sciences First Department of Internal Medicine, Professor (30128160)
KAWAKAMI Atsushi Nagasaki University, Hospital of Medicine and Dentistry, First Department of Internal Medicine, Lecturer (90325639)
ARAMAKI Toshiyuki Nagasaki University, Hospital of Medicine and Dentistry, First Department of Internal Medicine, Post-graduate student (80404284)
有馬 和彦 長崎大学, 大学院医歯薬学総合研究科, 客員研究員 (30423635)
|
|---|
| Budget Amount *help |
¥3,890,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥390,000)
Fiscal Year 2007: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2006: ¥2,200,000 (Direct Cost: ¥2,200,000)
|
|---|
| Research Abstract |
One of the diseases that have an abnormal behavior in TNF receptor is TNF receptor-associated periodic syndrome (TRAPS), which is an autosomal dominant inherited disease characterized by prolonged episodes of periodic fever and localized inflammation. TRAPS patients are known to be rare in Asia. We previously reported a Japanese TRAPS patient associated with systemic lupus erythematosus (SLE)with a novel TNF receptor superfamily 1A gene (TNFRSF1A)mutation (T61I)[Rheumatology 43: 1292, 2004].
We examined patients with unknown fever derived from hospitals in Japan and we surveyed TRAPS patients with TNFRSF1 A mutation according to literature and the Japanese meetings. Sixty-six patients with unknown fever were consulted for us. We examined serum levels of cytokines(TNFα, sTNFRSF1A, sTNFRSF1B, and IL-6), TNFRSF1A mutations(exon 2, 3, 4), and clinical charts to make a diagnosis of TRAPS.
1)One patient was diagnosed with TRAPS (T61I mutation) and three patients were diagnosed with familial Mediterranean fever (FMF). 2) Until now 18 TRAPS patients from 7 pedigree including 5 different mutations (C30R, C30Y, T61I, C70S, C70G)had been reported in Japan. Chest pain and abdominal pain were rare clinical symptoms in the Japanese TRAPS patients. There were six sporadic cases of TRAPS without TNFRSFLA mutation in our epidemiological study. 3) We recognized unique clinical symptoms (recurrent fever, lipodystrophy, hypertrophic osteoperiostosis, skin eruptions, calcification of the basal ganglia, etc)in two cases similar to Nakajo syndrome which was reported by Dr. Atsushi Nakajo in 1939. This autosomal recessive inherited syndrome might be a new autoinflammatory syndrome.
|
