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

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.