Renal transplantation in a patient with MHY9-related disease; a case report
Affiliation
Division of Nephrology, University of ArizonaIssue Date
2020-05-07Keywords
End-stage renal diseaseGene sequencing
Large platelets
Mutations
MYH9-related disease
non-muscle myosin IIA
Renal transplant
thrombocytopenia
Metadata
Show full item recordCitation
Zununi Vahed S, Niknafs B, Noshad H, Tolouian R, Mohajel Shoja M, Tolouian A, et al. Renal transplantation in a patient with MHY9-related disease; a case report. J Nephropathol. 2023;12(1):e15980. DOI: 10.34172/jnp.2022.15980.Journal
Journal of NephropathologyRights
© 2023 The Author(s); Published by Society of Diabetic Nephropathy Prevention. This is an open-access article distributed under the terms of the Creative Commons Attribution License.Collection Information
This item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at repository@u.library.arizona.edu.Abstract
MYH9-related diseases (MYH9-RD) are clinically represented by thrombocytopenia, large platelets, proteinuria and various degrees of renal dysfunction. We present a 25-year-old male with thrombocytopenia, large platelets, renal dysfunction and proteinuria. Gene sequencing of whole exons of MYH9 gene confirmed the diagnosis of MYH9-related disorder and revealed single nucleotide polymorphisms (SNPs) in the introns 13 (rs3752462) and 14 (rs2413396) and a mutation in exon 26 of MYH9 gene. Our result supported the possibility of non-coding SNPs involvement in the pathogenicity of the MYH9-RD disease and successful renal transplant in this patient. © 2023 The Author(s); Published by Society of Diabetic Nephropathy Prevention..Note
Open access journalISSN
2251-8363Version
Final Published VersionScopus Count
Collections
Except where otherwise noted, this item's license is described as © 2023 The Author(s); Published by Society of Diabetic Nephropathy Prevention. This is an open-access article distributed under the terms of the Creative Commons Attribution License.