SLC4A1在遗传性远端肾小管酸中毒中的研究进展

Research Progress of SLC4A1 in Hereditary Distal Renal Tubular Acidosis

溶质载体家族4成员A1(SLC4A1)是一种重要的跨膜糖蛋白,在肾脏酸碱平衡稳态的调节及维持红细胞膜的稳定性中发挥重要作用。人SLC4A1基因的两个启动子分别编码位于红细胞表面的红细胞阴离子交换蛋白1和肾脏闰细胞基膜侧的肾脏阴离子交换蛋白1。SLC4A1基因突变通过使SLC4A1蛋白转运异常或功能丧失,导致遗传性远端肾小管酸中毒(dRTA)、遗传性球形红细胞增多症和东南亚卵形红细胞症。目前SLC4A1突变引起dRTA的致病机制已取得相应进展,为遗传性dRTA诊治提供了一些治疗方向,有望在细胞水平治疗遗传性dRTA。

The solute carrier family 4 member A1(SLC4A1)is an important transmembrane glycoprotein,which plays an important role in regulating the acid-base homeostasis of kidney and maintaining the stability of erythrocyte membrane.Human SLC4A1 gene has two promoters,which encode erythrocyte anion exchange protein 1 on the surface of erythrocytes and kidney anion exchange protein 1 on the basement membrane side of intercellular kidney cells,respectively.The mutation of SLC4A1 gene can cause hereditary distal renal tubular acidosis(dRTA),hereditary spherocytosis and Southeast Asian ovalocytosis through abnormal transport or loss of function of SLC4A1 protein.At present,the pathogenesis of dRTA caused by SLC4A1 mutation has made corresponding progress,which provides some therapeutic directions for the diagnosis and treatment of hereditary dRTA,and is expected to realize the molecular level treatment.