title: Distal renal tubular acidosis: a hereditary disease with an inadequate urinary H⁺ excretion.
abstract: Distal renal tubular acidosis (dRTA) or RTA type I is characterised by reduced H+&nbsp;hydrogen ions and ammonium urinary excretion. In children affected by dRTA there is stunted growth, vomiting, constipation, loss of appetite, polydipsia and polyuria, nephrocalcinosis, weakness and muscle paralysis due to hypokalaemia. This work summarises progress made in dRTA genetic studies in populations studied so far. DRTA is heterogeneous and as such, transporters and ion channels are analysed which have been identified in alpha-intercalated cells of the collecting duct, which could explain cases of dRTA not associated with the hitherto studied genes. DRTA can be autosomal dominant or autosomal recessive. Autosomal recessive dRTA appears in the first months of life and progresses with nephrocalcinosis and early or late hearing loss. Autosomal dominant dRTA is less severe and appears during adolescence or adulthood and may or may not develop nephrocalcinosis. In alpha-intercalated cells of the collecting duct, the acid load is deposited into the urine as titratable acids (phosphates) and ammonium. Autosomal recessive dRTA is associated with mutations in genes ATP6V1B1, ATP6V0A4&nbsp;and&nbsp;SLC4A1, which encode subunits a4 and B1 of V-ATPase and the AE1 bicarbonate/chloride exchanger respectively. By contrast, autosomal dominant dRTA is only related to mutations in AE1.
authors: Departamento de Fisiología, Facultad de Medicina, Universidad Nacional Autónoma de México, Ciudad de México, DF, México. atr.funatim@gmail.com
authors: Laura
authors: L
authors: Escobar
authors: Natalia
authors: N
authors: Mejía
authors: Helena
authors: H
authors: Gil
authors: Fernando
authors: F
authors: Santos
mesh_terms: D000141:Acidosis, Renal Tubular / Q000378:metabolism / Q000652:urine*; D006801:Humans