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66岁起病的家族性地中海热。

Familial Mediterranean fever with onset at 66 years of age.

作者信息

Inoue Keita, Torii Kazuhiro, Yoda Aya, Kadota Koichiro, Nakamichi Seiko, Obata Yoko, Nishino Tomoya, Migita Kiyoshi, Kawakami Atsushi, Ozono Yoshiyuki

机构信息

Department of General Medicine, Nagasaki University School of Medicine, Japan.

出版信息

Intern Med. 2012;51(18):2649-53. doi: 10.2169/internalmedicine.51.6846. Epub 2012 Sep 15.

Abstract

The patient was a 68-year-old woman who had experienced recurrent febrile episodes since 66 years of age. Despite various examinations and treatments, the etiology remained unclear. Further examinations following another referral failed to uncover the cause. Therefore, despite her age, it was presumed that she had familial Mediterranean fever. An analysis of the familial Mediterranean fever (MEFV) gene detected heterozygous L110P, E148Q, and R202Q mutations. No further febrile episodes occurred after colchicine treatment was initiated. Familial Mediterranean fever presenting in patients in their sixties is extremely rare.

摘要

该患者为一名68岁女性,自66岁起反复出现发热症状。尽管进行了各种检查和治疗,病因仍不明确。再次转诊后的进一步检查也未能找出病因。因此,尽管患者年事已高,但推测她患有家族性地中海热。对家族性地中海热(MEFV)基因的分析检测到杂合的L110P、E148Q和R202Q突变。开始使用秋水仙碱治疗后未再出现发热症状。六十多岁患者出现家族性地中海热极为罕见。

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