Etiology and pathogenesis of hereditary renal tubular acidosis / 中华实用儿科临床杂志

ABSTRACT

Renal tubular acidosis (RTA) is a hyperchloremic metabolic acidosis characterized by a normal anion gap due to reduced urinary acidification.Multiple mechanisms act in the renal tubule to maintain balance in hydrogen ion secretions and bicarbonate absorption.In recent years,more and more proteins have been found to be associated with RTA,so hereditary RTA has attracted people's attention.Mutations in the gene SLC4A1,encoding C1-/HCO3-exchanger (kAE1);in the gene ATP6V1B1,encoding B1 subunit of H+-ATP ase;in the gene ATP6V0A4,encoding a4 subunit of H +-ATP ase;in the gene SLC4A4,encoding Na+/HCO3-cotransporter(kNBCe1);in the gene CA2,encoding carbonic anhydrase Ⅱ are identified in the pathogenesis of hereditary RTA.The search for pathogenetic genes for clinically suspected hereditary RTA patients can help us to make accurate genetic diagnosis and provide targeted treatment interventions.