7.De Vriese, Sethi S, Nath KA, et al. Differentiating Primary, Genetic, and Secondary FSGS in Adults: A Clinicopathologic Approach. J Am Soc Nephrol. 2018; 29:759-774. 8.Soler MJ, Glassock RJ, Fervenza FC. Inaxaplin for Proteinuric Kidney Disease in Persons with Two APOL1 Variants. N...
1. Kremers WK, Denic A, Lieske JC, et al. Distinguishing age-related from disease-related glomerulosclerosis on kidney biopsy: the Aging Kidney Anatomy study. Nephrol Dial Transplant 2015; 30:2034. 2. De Vriese AS, Sethi S, Nath KA, et al. Differentiating Primary, Genetic, and Secondary ...
患儿6 岁 8 个月,染色体核型为 XY,临床表现为激素耐药性肾病综合征伴高血压,肾脏病理表现为局灶性节段性肾小球硬化(遗传性肾脏病及免疫复合物介导的肾小球肾炎待除外),基因检测证实 WT1 罕见错义突变(c.1447+5(IVS9)G>A),WES测序验证显示患儿父母均为野生型,属于新发变异,符合 DDS 诊断,WT1 突变是该患儿...
2. Haas M, Yousefzadeh N. Glomerular tip lesion in minimal change nephropathy: a study of autopsies before 1950. Am J Kidney Dis 2002; 39:1168. 3. Stokes MB, Markowitz GS, Lin J, et al. Glomerular tip lesion: a distinct entity within the minimal change disease/focal segmental glomerulosc...
Weber S, Gribouval O, Esquivel EL, et al. NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int 2004; 66:571. Jungraithmayr TC, Hofer K, Cochat P, et al. Screening for NPHS2 mutations may help predict FSGS ...
1. Kremers WK, Denic A, Lieske JC, et al. Distinguishing age-related from disease-related glomerulosclerosis on kidney biopsy: the Aging Kidney Anatomy study. Nephrol Dial Transplant 2015; 30:2034. 2. De Vriese AS, Sethi S, Nath KA, et al. Different...
足细胞相关遗传变异与FSGS,陈楠 上海交通大学医学院附属瑞金医院肾脏科,1,内容优选,1957,RICH首先报道 1970,独立命名国际儿童肾脏病研究 临床特点:大量蛋白尿常NS,易进展为ESRD 病理特点:光镜 局灶节段性硬化,电镜
This causes podocyte loss and breach of the filtration barrier, which leads to proteinuria, the hallmark of progressive kidney diseases such as FSGS, TR-MCD and DN. Goldfinch Bio Initiates Phase 1 Clinical Trial of GFB-887 for Kidney Disease (7) Proteinuria is a hallmark of all types of nep...
另外一篇发表在Kidney International的文章也对NPHS2是否还有点突变与肾移植术后FSGS的复发进行了研究[2],研究表明在32名含有NPHS2突变的患者中,只有1名患者肾移植术后发生了FSGS的复发。这些研究结果表明,由遗传因素(主要为NPHS2发生突变)导致肾移植后FSGS...
1. Kremers WK, Denic A, Lieske JC, et al. Distinguishing age-related from disease-related glomerulosclerosis on kidney biopsy: the Aging Kidney Anatomy study. Nephrol Dial Transplant 2015; 30:2034. 2. De Vriese AS, Sethi S, Nath KA, et al. Differentiating Primary, Genetic, and Secondary ...