title: Successful renal transplantation in MYH9-related disorder with severe macrothrombocytopenia: first report in Korea.
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.
authors.affiliation: Department of Surgery, School of Medicine, Kyung Hee University, Wonju, Republic of Korea.
authors.forename: S Y
authors.initials: SY
authors.lastname: Min
authors.affiliation: Department of Surgery, School of Medicine, Kyung Hee University, Wonju, Republic of Korea. Electronic address: whipple@khu.ac.kr.
authors.forename: H J
authors.initials: HJ
authors.lastname: Ahn
authors.affiliation: Department of Surgery, School of Medicine, Kyung Hee University, Wonju, Republic of Korea.
authors.forename: W S
authors.initials: WS
authors.lastname: Park
authors.affiliation: Department of Laboratory Medicine, Wonju College of Medicine, Yonsei University, Wonju, Republic of Korea.
authors.forename: J W
authors.initials: JW
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000601:surgery*; D006801:Humans; D016030:Kidney Transplantation; D008297:Male; D056910:Republic of Korea; D012720:Severity of Illness Index; D013921:Thrombocytopenia / Q000150:complications / Q000151:congenital* / Q000601:surgery*; D016896:Treatment Outcome