TY - JOUR T1 - MYH9 Associated nephropathy JO - Nefrología (English Edition) T2 - AU - Furlano,Mónica AU - Arlandis,Rosa AU - del Prado Venegas,María AU - Novelli,Silvana AU - Crespi,Jaume AU - Bullich,Gemma AU - Ayasreh,Nadia AU - Remacha,Ángel AU - Ruiz,Patricia AU - Lorente,Laura AU - Ballarín,José AU - Matamala,Anna AU - Ars,Elisabet AU - Torra,Roser SN - 20132514 M3 - 10.1016/j.nefroe.2018.08.006 DO - 10.1016/j.nefroe.2018.08.006 UR - https://revistanefrologia.com/en-myh9-associated-nephropathy-articulo-S2013251419300604 AB - MYH9 related diseases are caused by mutations in the MYH9 gene and constitute a rare group of genetic entities. Its inheritance follows an autosomal dominant pattern. The MYH9 gene, encodes the nonmuscle myosin heavy chain IIA, expressed in different tissues and especially in podocytes and mesangial cells. The disorder is characterized by the presence of macrothrombocytopenia, leukocyte inclusions and a variable risk of developing renal failure, hearing loss and early-onset cataracts. We describe the case of a 27-year-old Caucasian woman, diagnosed initially with idiopathic thrombocytopenic purpura. After a detailed family history and the appearance of renal involvement and hearing loss, genetic testing allowed to make the diagnosis of nephropathy associated with MYH9 mutation. This case is an example of the delayed diagnosis of uncommon diseases and highlights the usefulness genetic testing. A review of the disease is provided. ER -