Renal Failure Due to MYH9-Related Disorder (Macro-Thrombocytopenia): Peritoneal Dialysis as a First Choice Therapy and Kidney Transplant from Living Donor

MYH9-related disorders, previously distinguished in four syndromes (Epstein syndrome, Fechter syndrome, Sebastian syndrome, May-Hegglin anomaly) based on the combination of different clinical findings at the time of diagnosis; appear to be only one rare nosological entity (MYH9RD). It has been recognized that they are all phenotypic variants due to mutation in MYH9 gene (heterozygous pathogenic variants) and that the clinical findings often worsen throughout life as a result of late onset of non-hematologic manifestations [1].