Abedi A S, Nakhjavani J M, Etemadi J
Transplantation Ward, Imam Reza Hospital, Chronic Renal Disease Research Center of Tabriz University of Medical Science, Tabriz, Iran.
Transplant Proc. 2013;45(10):3502-4. doi: 10.1016/j.transproceed.2013.09.021.
Familial Mediterranean fever (FMF) is an autosomal-recessive disorder, affecting multiple organs. The AA type of amyloidosis is most common and serious complication cause nephropathy and end-stage renal disease (ESRD). Renal transplantation (RTX) remains treatment of choice for ESRD. We aimed to investigate long-term results of RTX in patients with FMF amyloidosis.
We compared the outcomes of 18 patients (12 men and 6 women) with FMF amyloidosis among 601 (2.9%) transplants with 200 control patients. Demographic data and gene analysis were evaluated.
In our study the 1-year graft and patient survivals were 94.44% and 100%, respectively. At 5 years after RTX, they were 94.73% and 88.88%, respectively, in the FMF group without difference from controls. Mean creatinine level at 1 and 5 years were 1.43 ± 0.54 and 1.73 ± 0.89, respectively. The results of MEFV mutation analyses were: M694V/M694V homozygote in 1 patient, M694V/EQ148 in 3, M694V/V726A in 2, 680M-I/E148Q in 3, M694V/M680I in 5, R202Q/M680I in 2, and M694V/R202Q in 2. Recurrence was noticed in 1 patient with M694V/M680I. One patient died because of graft loss and cardiac complications with M694V/M680I gene analysis. Colchicine was reduced in 4 patients owing to side effects.
Long-term outcomes of transplantation in patients with amyloidosis secondary to FMF is similar to that in the general transplant population and maintenance colchicine, even after decreasing its dose, effectively prevents recurrence of amyloidosis in the allograft.
家族性地中海热（FMF）是一种常染色体隐性疾病，可累及多个器官。AA型淀粉样变性是最常见且最严重的并发症，可导致肾病和终末期肾病（ESRD）。肾移植（RTX）仍是ESRD的首选治疗方法。我们旨在研究FMF淀粉样变性患者肾移植的长期结果。
我们将601例移植患者（占2.9%）中的18例FMF淀粉样变性患者（12例男性和6例女性）的结局与200例对照患者进行了比较。评估了人口统计学数据和基因分析结果。
在我们的研究中，1年移植肾存活率和患者存活率分别为94.44%和100%。肾移植后5年，FMF组的这两项存活率分别为94.73%和88.88%，与对照组无差异。1年和5年时的平均肌酐水平分别为1.43±0.54和1.73±0.89。MEFV突变分析结果如下：1例患者为M694V/M694V纯合子，3例为M694V/EQ148，2例为M694V/V726A，3例为680M-I/E148Q，5例为M694V/M680I，2例为R202Q/M680I，2例为M694V/R202Q。1例M694V/M680I患者出现复发。1例M694V/M680I基因分析结果的患者因移植肾失功和心脏并发症死亡。4例患者因副作用减少了秋水仙碱用量。
FMF继发性淀粉样变性患者肾移植的长期结局与一般移植人群相似，即使减少剂量，维持使用秋水仙碱也能有效预防移植肾淀粉样变性复发。
