Mache C J, Goriup U, Fischel-Ghodsian N, Chen X, Schwingshandl J
University Children's Hospital, Graz, Austria.
Eur J Pediatr. 1996 Sep;155(9):787-90. doi: 10.1007/BF02002908.
We report a syndrome characterized by recurrent episodes of fever and serositis in an Austrian family. Three family members over two successive generations were affected. The febrile episodes had their onset at the age of 11-12 years, lasted 1-5 weeks, and occurred in intervals of 6-24 months. While the disorder resembles familial Mediterranean fever (FMF) clinically, ethnic distribution and other features suggest a distinct entity. Clinically, the attacks last longer than the usual FMF attacks, and in the male patients are associated with scrotal inflammation. Genetically, the disorder appears to be inherited as an autosomal dominant syndrome, whereas FMF is autosomal recessive. Molecular analysis made the involvement of a gene in the FMF region of chromosome 16p13.3 highly unlikely.
An Austrian family with recurrent fever syndrome is reported. Ethnicity, clinical features, and molecular studies point to a distinct clinical entity.
我们报告了一个奥地利家族中以反复发热和浆膜炎为特征的综合征。连续两代的三名家族成员受到影响。发热发作始于11 - 12岁，持续1 - 5周，发作间隔为6 - 24个月。虽然该病症在临床上类似于家族性地中海热（FMF），但种族分布和其他特征表明它是一个独特的实体。临床上，发作持续时间比通常的FMF发作更长，并且在男性患者中与阴囊炎症有关。在遗传方面，该病症似乎作为常染色体显性综合征遗传，而FMF是常染色体隐性遗传。分子分析极不可能涉及位于16p13.3染色体FMF区域的一个基因。
报告了一个患有反复发热综合征的奥地利家族。种族、临床特征和分子研究表明这是一个独特的临床实体。
