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.
Implication for health policy/practice/research/medical education:
It is important to consider the possibility of macro-platelet-thrombocytopenia (MTCP) in patients with thrombocytopenia and renal involvement, otherwise unnecessary therapeutic plasma exchange and immunosuppressive therapy may create deleterious side effects without bringing any benefit.
Please cite this paper as: 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.