Goodman D J, Clarke B, Hope R N, Miach P J, Dawborn J K
Department of Medicine, Austin Hospital, Heidelberg, Victoria, Australia.
Am J Nephrol. 1995;15(5):442-5. doi: 10.1159/000168881.
The aetiology and pathogenesis of focal glomerulosclerosis is poorly understood and many conflicting reports suggest HLA locus associations in both familial and non-familial glomerulosclerosis. We report a family in which 4 of 5 sisters developed proteinuria, 2 with hypertension and 1 progressing to end-stage renal failure (index case). Three underwent renal biopsy which displayed characteristic features of focal glomerulosclerosis and all shared the HLA alleles HLA-A1, B8, DR3, DR7. The index case received two cadaveric renal transplants from HLA-A1, B8, DR3 donors and developed chronic rejection with no histological evidence of recurrent glomerulonephritis in either kidney. The frequency of this haplotype in the Australian dialysis and transplant population with focal glomerulosclerosis was compared to that seen in the general Australian Caucasian population and was not significantly different suggesting that the presence of the HLA alleles HLA-A1, B8, DR3, DR7 may increase the predisposition to familial glomerulosclerosis but additional factors are required for disease development and progression.
局灶性节段性肾小球硬化的病因和发病机制尚不清楚，许多相互矛盾的报告表明，在家族性和非家族性肾小球硬化中都存在HLA位点关联。我们报告了一个家庭，5个姐妹中有4个出现蛋白尿，2个患有高血压，1个进展为终末期肾衰竭（索引病例）。其中3人接受了肾活检，显示出局灶性节段性肾小球硬化的特征性表现，并且她们都携带HLA等位基因HLA-A1、B8、DR3、DR7。索引病例接受了来自HLA-A1、B8、DR3供体的两次尸体肾移植，并发生了慢性排斥反应，两个移植肾均无复发性肾小球肾炎的组织学证据。将澳大利亚患有局灶性节段性肾小球硬化的透析和移植人群中这种单倍型的频率与澳大利亚普通白种人群中的频率进行比较，两者无显著差异，这表明HLA等位基因HLA-A1、B8、DR3、DR7的存在可能增加家族性肾小球硬化的易感性，但疾病的发生和进展还需要其他因素。
