MYH9 Associated nephropathy.

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. PMID: 30471777 [PubMed - as supplied by publisher]
Source: Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia - Category: Urology & Nephrology Tags: Nefrologia Source Type: research