The renal tubular acidosis (RTA) syndromes are a group of disorders characterized by an inability to excrete acid that is out of proportion to any reduction in glomerular filtration rate, and results from tubular defects in urinary acidification involving either the distal nephron (distal RTA) or the proximal nephron (proximal RTA). Distal renal tubular acidosis is characterized by an elevation in urinary pH despite the presence of serum acidosis. Complete distal tubular renal acidosis is responsible for delayed growth, plasma acidosis with hyperchloremia, hypokalemia, and hypercalciuria with nephrocalcinosis and hypocitruria. dRTA shows both autosomal recessive and autosomal dominant patterns of inheritance. Patients with recessive dRTA may also present with osteopetrosis, deafness, and mental retardation. Treatment includes administration of potassium and sodium bicarbonate supplements, in order to bring bicarbonate, potassium, and calcium levels within acceptable limits, and also to boost growth and reduce the calciuria.

Homozygous and compound heterozygous mutations in the SLC4A1 gene were identified in patients with dRTA and hemolytic anemia. Mutations in this gene are associated with progressive hearing loss, while the defect in urine acidification can be partial. S773P and G701D mutations in the SLC4A1 gene exhibit defective trafficking to the plasma membrane, causing dysfunction in the dRTA, while the recessive delV850 mutation decreases anion transport activity in the kidney, which may give rise to dRTA. The A858D mutation was found in dominant and recessive dRTA types.