INF2基因—编码肌动蛋白调节蛋白formin家族的一个成员,其突变最初是在2个常染色体显性遗传性FSGS大家族中发现。其受累家族成员活检证实FSGS、有终末期肾病(end-stage kidney disease, ESKD)或显著蛋白尿。INF2突变相关FSGS患者的发病年龄较晚(青春期或...
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...
关键词 利妥昔单抗 局灶节段性肾小球硬化 B 细胞 足细胞 酸性鞘磷脂酶样磷酸二酯酶 3b Mechanism and efficacy of rituximab in idiopathic focal segmental glomerulosclerosis MIN Min,ZHANG Jiong,WANG Jinquan National Clinical Research Center of Kidney Disease,Jinling Hospital,Nanjing Medical University, ...
1.Wheeler DC, Jongs N, Stefansson BV, et al. Safety and efficacy of dapagliflozin in patients with focal segmental glomerulosclerosis: a prespecified analysis of the dapagliflozin and prevention of adverse outcomes in chronic ...
Tzur S, Rosset S, Shemer R, et al. Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene. Hum Genet 2010; 128:345. Freedman BI, Kopp JB, Langefeld CD, et al. The apolipoprotein L1 (APOL1) gene and nondia...
[17,18],NakayamaM 等 therapyforsteroid-resistantnephriticsyndrome[J].KidneyIntSuppl, 观察两例激素抵抗型儿童 FSGS患者,传统治疗疗效 1999,56(Supp171):122—125 不佳 ,仅依靠甲基泼尼松龙冲击联合血液净化术维持 , [14] Montan6B,AbitbolC,ChnadarJ,eto21.Noveltherapyoffocal 但是 由于激素的不 良反应...
沙罗格列扎和肉豆蔻酸用于治疗局灶性节段性肾小球硬化(FSGS).pdf,本发明涉及一种包含沙罗格列扎和肉豆蔻酸或其盐或溶剂化物的药物制剂,其用于治疗局灶性节段性肾小球硬化(FSGS)。(19)国家知识产权局 (12)发明专利申请 (10)申请公布号 CN 116600802 A (43)申请公布日 2023.0
(MCD) and focal segmental glomerulosclerosis (FSGS) are a spectrum of a single disease within immune-mediated nephrotic syndrome[J/OL]. Kidney360, 2024. [2024-7-9].https://journals.lww.com/kidney360/citation/9900/minimal_change_disease__mcd__and_focal_segmental.425.aspx. DOI: 10.34067/KID...
[5]Pascual J, Mezrich JD, Djamali A, et al. Alemtuzumab induction and recurrence of glomerular disease after kidney transplantation. Transplantation 2007; 83:1429. 文| 王继纳插图|邹茼 本文为“复旦大学附属中山医院肾移植”公众微信号原创文章,转载需经本微信号和原文作者授权并标明出处。关爱肾脏,从关...
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 ...