Distal renal tubular acidosis in an infant due to variant in the ATP6V0A4 gene. Case report

Abstract

Introduction: Renal tubular acidosis (RTA) includes a diverse clinic that depends on the anatomical site where the tubular alteration is located, with four types of RTA being differentiated. Distal renal tubular acidosis (dRTA) or Type I is a rare clinical condition (1:100,000 children) that is due to the presence of a tubular disorder. It is due to primary or genetic causes; In children, the ATP6V0A4 and ATP6V1B1 genes have frequently been found to be homozygously altered, which causes dysfunction of the H+ ATPase pump of the apical membranes in the distal tubule generating an inadequate secretion of hydrogenions resulting in persistent hyperchloremic metabolic acidosis, with hydroelectrolytic disorders that can generate alterations in bone metabolism, renal and gastrointestinal alterations, and failure to grow. Conclusion: Timely diagnosis, adequate follow-up and treatment can avoid complications and allow adequate growth during childhood.