激素耐药型肾病综合征与CD24P基因

Steroid-resistant nephrotic syndrome and CD2AP gene

CD2AP基因位于染色体6p12．3，编码CD2相关蛋白（CD2AP）。CD2AP对于维持肾小球足细胞裂孔隔膜结构和功能的完整性具有重要作用。CD2AP基因突变所致激素耐药型肾病综合征（SRNS）呈常染色体隐性遗传或常染色体显性遗传。CD2AP基因纯合突变导致早发型SRNS。CD2AP基因杂合突变可以增加患。肾小球疾病的易患性。携带CD2AP基因纯合突变的SRNS患儿肾移植后不再复发肾病综合征。对CD2AP基因的研究有助于指导SRNS的治疗和判断预后。

Mutations in CD2AP, mapped to 6p12. 3 and encoding CD2 -associated protein （CD2AP）, are responsible for autosomal recessive or autosomal dominant steroid - resistant nephrotic syndrome （SRNS）. CD2AP plays a key role in the slitdiaphragm network of the kidney, which is necessary for the structure and ultrafihration functions of the slitdiaphragm. The CD2AP homozygous mutation results in early - onset SRNS while heterozygous expression of the CD2AP mutation has increased susceptibility to glomerular injury. No recurrence of proteinuria was observed in the patient with SRNS with CD2AP homozygous mutation after the renal transplantation. Therefore, detection of the CD2AP gene in the patients suffering from SRNS will be beneficial to making therapeutic decisions and predicting prognoses.