Department of Internal Medicine-Nephrology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Am J Kidney Dis. 2010 May;55(5):e21-4. doi: 10.1053/j.ajkd.2009.10.060. Epub 2010 Jan 29.
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.
C1q 肾病是一种罕见的肾脏疾病，可表现为肾病综合征，其组织学表型通常为微小病变性疾病或局灶节段性肾小球硬化症（FSGS）。关于它是否是一种独特的免疫复合物介导的肾小球病，还是存在于 FSGS-微小病变病谱中，存在争议。两名患有 C1q 肾病的非裔美国患者，其组织学表现为 FSGS 的塌陷变体（塌陷性 C1q 肾病），且肾功能迅速丧失，对非肌肉肌球蛋白重链 9 基因（MYH9）的多态性进行了基因分型。两种情况均为 MYH9 E1 风险单倍型纯合子，该变体与特发性 FSGS、人类免疫缺陷病毒相关性肾病中的塌陷 FSGS 和局灶性全球肾小球硬化症（历史上归因于高血压性肾病）强烈相关。进展迅速至终末期肾病的塌陷性 C1q 肾病似乎存在于与 MYH9 相关的疾病谱中。
