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...
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 ...
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...
Choy BY, Chan TM, Lai KN. Recurrent glomerulonephritis after kidney transplantation. Am J Transplant 2006; 6:2535. Abbott KC, Sawyers ES, Oliver JD 3rd, et al. Graft loss due to recurrent focal segmental glomerulosclerosis in renal transplant recipients in the United States. Am J Kidney Dis ...
目前人们对于FSGS仍有太多未知,即使是原发性FSGS,异质性也非常大,且FSGS的治疗存在诸多困境,包括频繁复发,激素依赖,激素抵抗和快速进展为终末期肾病(End stage kidney disease, ESKD)。南昌大学第二附属医院徐承云教授在本文中综述了遗传性FSGS的诊治进展。
[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...
(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...
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 ...
相比之下,没有免疫复合物沉积的足细胞损伤,在组织病理学上表现为不同的损伤特征,据此可以分为四种类型:弥漫性系膜硬化(diffuse mesangial sclerosis,DMS),其特征是系膜基质扩张和足细胞肥大;微小病变肾病(minimal change disease,MCD)又称为微小病变性肾小球病(minimal change glomerulopathy,MCG),主要见于儿童,所谓的...
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, ...