Yalçinkaya F, Tekin M, Cakar N, Akar E, Akar N, Tümer N
Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey.
QJM. 2000 Oct;93(10):681-4. doi: 10.1093/qjmed/93.10.681.
We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients. No mutation frequency, including that of M694V, was different between the two groups. Family history of amyloidosis and parental consanguinity were noted to be higher in the amyloidosis group. The seven mutations do not appear to be sufficient to explain the development of amyloidosis in Turkish FMF patients. Other genetic factors may be important for this association.
我们比较了20名在40岁时未接受秋水仙碱治疗且未发生淀粉样变性的土耳其家族性地中海热(FMF)患者与27名土耳其淀粉样变性患者中七种MEFV突变(M694V、M680I、V726A、M694I、K695R、R761H、E148Q)的频率以及临床发现。两组之间包括M694V在内的任何突变频率均无差异。淀粉样变性组的淀粉样变性家族史和父母近亲结婚率更高。这七种突变似乎不足以解释土耳其FMF患者淀粉样变性的发生。其他遗传因素可能对这种关联很重要。