Nefropatía asociada a mutación del gen MYH9 Mónica

MYH9 related diseases are caused by mutations in the MYH9 gene and constitute a raregroup of genetic entities. Its inheritance follows an autosomal dominant pattern. The MYH9 gene, encodes the nonmuscle myosin heavy chain IIA, expressed in different tissues andespecially in podocytes and mesangial cells. The disorder is characterized by the presenceof macrothrombocytopenia, leukocyte inclusions and a variable risk of developing renalfailure, hearing loss and early-onset cataracts. We describe the case of a 27-year-old Caucasianwoman, diagnosed initially with idiopathic thrombocytopenic purpura. After a detailedfamily history and the appearance of renal involvement and hearing loss, genetic testingallowed to make the diagnosis of nephropathy associated with MYH9 mutation. This case isan example of the delayed diagnosis of uncommon diseases and highlights the usefulnessgenetic testing. A review of the disease is provided.