Abstract
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.
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