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 ...
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...
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...
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...
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 ...
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...
Nephrology is no different and outstanding accomplishments include improvements in dialysis therapy, hormonal therapy of chronic kidney disease, and the identification of the molecular genetic basis of a number of common conditions. However, each field also has glaring shortcomings in its knowledge base ...