Min S Y, Ahn H J, Park W S, Kim J W
Department of Surgery, School of Medicine, Kyung Hee University, Wonju, Republic of Korea.
Department of Surgery, School of Medicine, Kyung Hee University, Wonju, Republic of Korea.
Transplant Proc. 2014;46(2):654-6. doi: 10.1016/j.transproceed.2013.11.144.
MYH9-related disorders (MYH9 RD) are genetic disorders by the variation of MYH9 gene that encodes for the nonmuscle myosin heavy chain IIA. The clinical and laboratory findings of Fechtner syndrome, an MYH9 RD, are macrothrombocytopenia, basophilic cytoplasmic inclusion bodies in leukocytes, glomerulopathy, sensorineural deafness, and cataracts. Fechtner syndrome is a rare cause of chronic kidney disease. To our knowledge, this is first report of successful renal transplant in MYH9 RD in Korea. We report the two cases with a brief review of literatures since we experienced successful living donor kidney transplantation in Fechtner syndrome with end-stage renal disease, showing very serious thrombocytopenia due to MYH9 mutation.
MYH9相关疾病（MYH9 RD）是由编码非肌肉肌球蛋白重链IIA的MYH9基因变异引起的遗传性疾病。MYH9 RD中的费希特纳综合征的临床和实验室检查结果为大血小板减少、白细胞嗜碱性细胞质包涵体、肾小球病、感音神经性耳聋和白内障。费希特纳综合征是慢性肾病的罕见病因。据我们所知，这是韩国首例关于MYH9 RD患者成功进行肾移植的报道。我们报告了两例病例，并简要回顾了文献，因为我们在患有终末期肾病的费希特纳综合征患者中成功进行了活体供肾移植，这些患者因MYH9突变而出现非常严重的血小板减少。
