家族性地中海热的II型表型调查。
A survey of phenotype II in familial Mediterranean fever.
作者信息
Melikoğlu M, Ozdoğan H, Korkmaz C, Kasapçopur O, Arisoy N, Akkuş S, Fresko Z, Yazici H
机构信息
Department of Rheumatology, Cerrahpaşa Medical School, University of Istanbul, Istanbul, Turkey.
出版信息
Ann Rheum Dis. 2000 Nov;59(11):910-3. doi: 10.1136/ard.59.11.910.
OBJECTIVE
Phenotype II in familial Mediterranean fever (FMF) is the onset of amyloidosis before the onset of FMF with its typical attacks, or as an isolated finding in a member of an FMF family. Its presence was investigated by looking for proteinuria among the asymptomatic relatives of patients with FMF complicated by amyloidosis and among the asymptomatic relatives of patients with juvenile chronic arthritis (JCA) complicated by amyloidosis, used as controls.
METHODS
The relatives of the index patients (13 with FMF and amyloidosis) and controls (6 with JCA and amyloidosis) were screened for proteinuria. Rectal biopsies were performed when proteinuria was significant (>/=300 mg/d).
RESULTS
461 relatives were screened in the FMF group and 269 among the controls. Two of the FMF relatives and one JCA relative had no symptoms of FMF but had significant proteinuria. Rectal biopsy for amyloidosis was negative in all instances of significant proteinuria.
CONCLUSION
Phenotype II is uncommon among the relatives of patients with FMF and amyloidosis.
目的
家族性地中海热（FMF）的II型表型是指在FMF典型发作之前出现淀粉样变性，或在FMF家族成员中作为孤立发现。通过在合并淀粉样变性的FMF患者的无症状亲属以及作为对照的合并淀粉样变性的青少年慢性关节炎（JCA）患者的无症状亲属中寻找蛋白尿来研究其存在情况。
方法
对索引患者（13例FMF合并淀粉样变性）和对照（6例JCA合并淀粉样变性）的亲属进行蛋白尿筛查。当蛋白尿显著（≥300mg/d）时进行直肠活检。
结果
FMF组筛查了461名亲属，对照组筛查了269名。FMF亲属中有2名和JCA亲属中有1名没有FMF症状，但有显著蛋白尿。所有显著蛋白尿病例的直肠淀粉样变性活检均为阴性。
结论
II型表型在FMF合并淀粉样变性患者的亲属中并不常见。
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