Publication Date
5-2020
Publication Name
Journal of Nephropathology
Document Type
Article
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.
Volume
9
Issue
3
DOI
https://doi.org/10.34172/jnp
Comments
Vahed, S., Niknafs, B., Noshad, H., Tolouian, R., Shoja, M., Tolouian, A., Ardalan, M. (2021). Renal transplantation in a patient with MHY9-Related disease; a case report. Journal of Nephropathology, 9(3) https://doi.org/10.34172/jnp.