Ⅳ型胶原相关遗传性肾病的基因及细胞治疗的研究进展  

Advances in research on gene and cell therapy for type Ⅳ collagen related hereditary kidney diseases

作　　者：史一帆[1] 谢静远[1] 张敬之 任红[1] Shi Yifan;Xie Jingyuan;Zhang Jingzhi;Ren Hong(Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200025, China;Children's Hospital of Shanghai Jiaotong University School of Medicine, Shanghai 200040, China)

机构地区：[1]上海交通大学医学院附属瑞金医院,200025 [2]上海交通大学医学院附属儿童医院,200040

出　　处：《中华医学遗传学杂志》2019年第2期179-182,共4页Chinese Journal of Medical Genetics

基　　金：国家重点基础研究发展计划(2012CB517604);科技部十二五科技攻关项目(2011BA110B06);国家自然科学基金(81570598);上海市自然科学基金(15ZR1426300).

摘　　要：Ⅳ型胶原是一种主要分布于基底膜的细胞外基质成分,其分泌或装配异常将导致遗传性的肾脏病变。目前已识别的Ⅳ型胶原相关肾病主要包括Alport综合征、薄基底膜肾病以及遗传性局灶节段性肾小球硬化等。这类肾病的治疗主要包括药物、肾移植及基因和细胞治疗等。总体来说,药物的疗效并不显著,肾移植则存在肾源较少且有发生抗肾基底膜肾炎的风险,基因及细胞治疗因此被认为是治疗这类肾病最有潜力的方案。Type Ⅳ collagen is a component of the extracellular matrix in the basement membrane. Abnormal secretion or assembly of type Ⅳ collagen may lead to kidney lesions resulting in numerous nephropathy symptoms, e. g., Alport syndrome, thin basement membrane nephropathy, and focal segmental glomerulosclerosis. Treatment for type Ⅳ collagen-related nephropathy includes drugs, kidney transplantation, gene and cell therapy. However, drugs are not always effective, and kidney transplantation is hindered by the shortage of donors. Moreover, basement membrane nephritis often occurs after kidney transplantation. Therefore, gene and cell therapy probably is the most promising treatment for type Ⅳ collagen related nephropathies.

关 键 词：基因治疗 细胞治疗 Ⅳ型胶原 ALPORT综合征 局灶节段性肾小球硬化 

分 类 号：R692[医药卫生—泌尿科学]