• Mónica Furlano, Rosa Arlandis, María Del Prado Venegas, Silvana Novelli, Jaume Crespi, Gemma Bullich, Nadia Ayasreh, Ángel Remacha, Patricia Ruiz, Laura Lorente, José Ballarín, Anna Matamala, Elisabet Ars, and Roser Torra.
• Enfermedades Renales Hereditarias, Servicio de Nefrología, Fundació Puigvert, Barcelona, España; Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Barcelona, España; Departamento de Medicina, Universidad Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, España.
• Nefrologia (Engl Ed). 2019 Mar 1; 39 (2): 133-140.

AbstractMYH9 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.Copyright © 2018 Sociedad Española de Nefrología. Published by Elsevier España, S.L.U. All rights reserved.

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