Successful Kidney Transplantation in MYH-9-Related Disease Presenting with Severe Macrothrombocytopenia

Abstract

MYH-9-related diseases are a group of genetic diseases caused by mutations in the MYH-9 gene, which encodes for the non-muscle myosin heavy chain IIA (NMMHC-IIA), showing autosomal dominant inheritance. NMMHC-IIA protein is found in platelet, granulocyte, podocyte, mesangial, tubule epithelial, and cochlear cells and, when they are mutated, symptoms may occur due to loss of functions of these cells [1,2]. Although renal failure, hearing loss, and cataracts can be seen with some subtypes, macrothrombocytopenia is seen in almost all groups of MYH-9-related diseases [3]. Here, we present the case of a successful kidney transplantation for a patient who presented to our hospital with the diagnosis of immune thrombocytopenic purpura (ITP) and chronic kidney disease and was found to have MYH-9-related disease in examinations for macrothrombocytopenia.