Yamane Tateki, Uchiyama Kan, Hata Daigo, Nakamura Makoto, Ishii Takayuki, Koido Shigeo, Fujise Kiyotaka, Tajiri Hisao
Division of Gastroenterology and Hepatology, Department of Internal Medicine, The Jikei University Kashiwa Hospital, Kashiwashita, Chiba.
Intern Med. 2006;45(8):515-7. doi: 10.2169/internalmedicine.45.1593. Epub 2006 May 15.
The patient was a 63-year-old woman with attacks of fever and abdominal pain, starting from the age of 53 years and recurring every month. Despite various examinations at another hospital, the etiology remained unclear. She was under symptomatic treatment, and was referred to our department for further evaluation. Although she had onset in middle age, the clinical symptoms and examination findings suggested familial Mediterranean fever, and administration of colchitine inhibited the attacks completely. Therefore, the patient was diagnosed as having the disease. We were not able to analyze the entire MEFV gene, but detected only a heterozygous M694I mutation. Amyloidosis did not develop as a complication. The disease is rare in Japan, and its onset in the fifties is extremely rare in the world.
该患者为一名63岁女性,自53岁起每月发作一次发热和腹痛。尽管在另一家医院进行了各种检查,但病因仍不明确。她接受了对症治疗,并被转诊至我科进行进一步评估。虽然她中年起病,但临床症状和检查结果提示为家族性地中海热,服用秋水仙碱后发作完全得到抑制。因此,该患者被诊断为此病。我们无法分析整个MEFV基因,仅检测到一个杂合的M694I突变。未发生淀粉样变性并发症。该疾病在日本较为罕见,在全球范围内五十多岁发病极为罕见。