Renal transplantation in a patient with MHY9-related disease; a case report
| Autor: | Sepideh Zununi Vahed, Bahram Niknafs, Hamid Noshad, Ramin Tolouian, Mohammadali Mohajel Shoja, Audrey Tolouian, Mohammadreza Ardalan |
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| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | Journal of Nephropathology. |
| ISSN: | 2251-8819 2251-8363 |
| DOI: | 10.34172/jnp.2022.15980 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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