Is collapsing C1q nephropathy another MYH9-associated kidney disease? A case report.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation
A M Reeves-DanielBarry I Freedman

Abstract

C1q nephropathy is a rare kidney disease that can present with nephrotic syndrome and typically has the histologic phenotype of either minimal change disease or focal segmental glomerulosclerosis (FSGS). Disagreement exists about whether it is a distinct immune complex-mediated glomerulopathy or it resides in the spectrum of FSGS-minimal change disease. Two African American patients with C1q nephropathy histologically presenting as the collapsing variant of FSGS (collapsing C1q nephropathy) and rapid loss of kidney function were genotyped for polymorphisms in the non-muscle myosin heavy chain 9 gene (MYH9). Both cases were homozygous for the MYH9 E1 risk haplotype, the variant strongly associated with idiopathic FSGS, collapsing FSGS in human immunodeficiency virus-associated nephropathy, and focal global glomerulosclerosis (historically attributed to hypertensive nephrosclerosis). Collapsing C1q nephropathy with rapid progression to end-stage renal disease appears to reside in the MYH9-associated disease spectrum.

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Citations

Nov 10, 2011·Current Hypertension Reports·Barry I Freedman, Mariana Murea
Sep 21, 2011·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Barry I FreedmanJohn S Parks
Feb 4, 2012·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Barry I Freedman, Carl D Langefeld
Jan 7, 2010·Current Opinion in Nephrology and Hypertension·Mariana Murea, Barry I Freedman
May 25, 2010·Seminars in Dialysis·Barry I Freedman, Mariana Murea
Jun 5, 2010·American Journal of Nephrology·Barry I FreedmanUNKNOWN PROFILE Study Group
Oct 21, 2015·Kidney Research and Clinical Practice·Taehoon OhEun Young Lee
Sep 11, 2013·The Journal of Organic Chemistry·Kiran R GoreP I Pradeepkumar
Mar 20, 2010·Clinical Journal of the American Society of Nephrology : CJASN·Meredith A Bostrom, Barry I Freedman
Oct 23, 2018·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Barry I FreedmanJeffrey B Kopp

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