Mustafa Cem Bülbül, Şahin Avcı, Berna Yelken, Burak Koçak, Olga Meltem Akay
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Successful Kidney Transplantation in MYH-9-Related Disease Presenting with Severe Macrothrombocytopenia
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.
期刊介绍:
The Turkish Journal of Hematology is published quarterly (March, June, September, and December) by the Turkish Society of Hematology. It is an independent, non-profit peer-reviewed international English-language periodical encompassing subjects relevant to hematology.
The Editorial Board of The Turkish Journal of Hematology adheres to the principles of the World Association of Medical Editors (WAME), International Council of Medical Journal Editors (ICMJE), Committee on Publication Ethics (COPE), Consolidated Standards of Reporting Trials (CONSORT) and Strengthening the Reporting of Observational Studies in Epidemiology (STROBE).
The aim of The Turkish Journal of Hematology is to publish original hematological research of the highest scientific quality and clinical relevance. Additionally, educational material, reviews on basic developments, editorial short notes, images in hematology, and letters from hematology specialists and clinicians covering their experience and comments on hematology and related medical fields as well as social subjects are published. As of December 2015, The Turkish Journal of Hematology does not accept case reports. Important new findings or data about interesting hematological cases may be submitted as a brief report.