Højberg A S, Mertz H
Børneafdelingen og patologisk institut, Aalborg Sygehus.
Ugeskr Laeger. 1995 Jul 10;157(28):4035-7.
Familial Mediterranean fever (FMF) is a genetic disorder virtually restricted to people originating from the Middle East. It is characterized by short, self-limiting, febrile attacks of peritonitis, synovitis, pleuritis or an erysipelas-like erythema. Without treatment systemic amyloidosis often develops and causes death in renal failure, usually at an early age. Two siblings with FMF and renal amyloidosis are presented. One had nephrotic syndrome, the other severe proteinuria. Continuous colchicine treatment reverse the nephrotic syndrome and in both patients the proteinuria was reduced. It is concluded, that even though colchicine can improve severe renal amyloidosis, early diagnosis of FMF is crucial because continuous colchicine treatment prevents both the febrile attacks and the amyloidosis.
家族性地中海热（FMF）是一种几乎仅限于中东裔人群的遗传性疾病。其特征为腹膜炎、滑膜炎、胸膜炎或丹毒样红斑的短暂、自限性发热发作。未经治疗，系统性淀粉样变性常发展并导致肾衰竭死亡，通常发生在早年。本文介绍了两名患有FMF和肾淀粉样变性的兄弟姐妹。其中一人患有肾病综合征，另一人有严重蛋白尿。持续使用秋水仙碱治疗使肾病综合征得到逆转，两名患者的蛋白尿均减少。得出的结论是，尽管秋水仙碱可以改善严重的肾淀粉样变性，但FMF的早期诊断至关重要，因为持续使用秋水仙碱治疗可预防发热发作和淀粉样变性。
