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

Jornal brasileiro de nefrologia : ʹorgão oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
Gabriela SevignaniFellype Carvalho Barreto

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.

References

May 27, 2008·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Alessandro PecciCarlo L Balduini
Mar 20, 2010·Clinical Journal of the American Society of Nephrology : CJASN·Meredith A Bostrom, Barry I Freedman
Oct 21, 2015·Kidney Research and Clinical Practice·Taehoon OhEun Young Lee

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Citations

Aug 7, 2019·Clinical Kidney Journal·Nahid TabibzadehPhilippe Vanhille
Apr 1, 2020·Jornal brasileiro de nefrologia : ʹorgão oficial de Sociedades Brasileira e Latino-Americana de Nefrologia·Mariana Faucz Munhoz da CunhaFellype Carvalho Barreto
Jun 11, 2020·Journal of Pediatric Hematology/oncology·Kun LiXiaoyan Wu

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Methods Mentioned

BETA
biopsy
genotyping

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