Genetic Diagnosis and Treatment of Inherited Renal Tubular Acidosis.

Abstract

Background: Renal tubular acidosis (RTA) is caused by various disruptions to the secretion of H⁺ by distal renal tubules and/or dysfunctional reabsorption of HCO₃^- by proximal renal tubules, which causes renal acidification dysfunction, ultimately leading to a clinical syndrome characterized by hyperchloremic metabolic acidosis with a normal anion gap. With the development of molecular genetics and gene sequencing technology, inherited RTA has also attracted attention, and an increasing number of RTA-related pathogenic genes have been discovered and reported.

Summary: This paper focuses on the latest progress in the research of inherited RTA and systematically reviews the pathogenic genes, protein functions, clinical manifestations, internal relationship between genotypes and clinical phenotypes, diagnostic clues, differential diagnosis, and treatment strategies associated with inherited RTA. This paper aims to deepen the understanding of inherited RTA and reduce the missed diagnosis and misdiagnosis of RTA.

Key messages: This review systematically summarizes the pathogenic genes, pathophysiological mechanisms, differential diagnosis, and treatment of different types of inherited RTA, which has good clinical value for guiding the diagnosis and treatment of inherited RTA.