Journal
AMERICAN JOURNAL OF KIDNEY DISEASES
Volume 55, Issue 5, Pages E21-E24Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1053/j.ajkd.2009.10.060
Keywords
African American; C1q nephropathy; collapsing variant; focal segmental glomerulosclerosis; human immunodeficiency virus-associated nephropathy (HIVAN); MYH9
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Funding
- National Institutes of Health [RO1 DK070941, RO1 DK084149, RO1 DK53591]
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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. Am J Kidney Dis 55:e21-e24. (C) 2010 by the National Kidney Foundation, Inc.
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