Macrothrombocytopenia, renal dysfunction and nephrotic syndrome in a young male patient: a case report of MYH9-related disease

• Autor(a) principal: Sevignani,Gabriela
• Data de Publicação: 2018
• Outros Autores: Pavanelli,Giovana Memari, Milano,Sibele Sauzem, Ferronato,Bianca Ramos, Pachaly,Maria Aparecida, II Cheong,Hae, Carvalho,Mauricio de, Barreto,Fellype Carvalho
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: Jornal Brasileiro de Nefrologia
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002018000200198
• topic: Renal Insufficiency, Chronic; Thrombocytopenia; Nephrotic Syndrome; Genetic Diseases, Inborn; Rare Diseases

ABSTRACT MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approximately 30% of MYH9-related disease in a male patient carrier of a de novo missense mutation in exon 1 of the MYH9 gene [c.287C > T; p.Ser(TCG)96(TTG)Leu]. He presented all phenotypic manifestations of the disease, but cataracts. Renal alterations were microhematuria, nephrotic-range proteinuria (up to 7.5 g/24h), and rapid loss of renal function. The decline per year of the glomerular filtration rate was 20 mL/min/1.73m2 for five years. Blockade of the renin-angiotensin system, the only recommended therapy for slowing the progression of this nephropathy, was prescribed. Although MYH9-related disease is a rare cause of glomerulopathy and end-stage renal disease, awareness of rare genetic kidney disorders is essential to ensure accurate diagnosis and proper management of orphan disease patients.