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一个芬兰家族中的常染色体显性“地中海热”

Autosomal dominant 'Mediterranean fever' in a Finnish family.

作者信息

Karenko L, Pettersson T, Roberts P

机构信息

Fourth Department of Surgery, Helsinki University Central Hospital, Finland.

出版信息

J Intern Med. 1992 Oct;232(4):365-9. doi: 10.1111/j.1365-2796.1992.tb00600.x.

Abstract

A 23-year-old Finnish man was examined because of an 8-year history of recurrent bouts of fever and abdominal pain. His father had been repeatedly investigated because of similar episodes since he was 24 years old, and one of the father's sisters was reported to have had recurrent periods of fever. The clinical features closely resembled those of familial Mediterranean fever (FMF), a syndrome rarely described in families of European descent. Unlike typical FMF, which is inherited as an autosomal recessive trait, the mode of inheritance of the syndrome in our family may be regarded as dominant. During a recent attack, serum concentrations of interleukin-1-beta, interleukin-6 and acute phase reactants, including serum amyloid A protein, were high. No signs of amyloidosis were detected in our patients.

摘要

一名23岁的芬兰男子因有8年反复发热和腹痛病史而接受检查。他的父亲自24岁起就因类似症状多次接受检查,据报道,父亲的一个姐妹也有反复发热的情况。临床特征与家族性地中海热(FMF)极为相似,这是一种在欧洲血统家族中很少描述的综合征。与典型的以常染色体隐性遗传的FMF不同,我们家族中该综合征的遗传模式可能被视为显性遗传。在最近一次发作期间,白细胞介素-1-β、白细胞介素-6以及包括血清淀粉样蛋白A在内的急性期反应物的血清浓度都很高。在我们的患者中未检测到淀粉样变性的迹象。

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