Renal tubular acidosis (RTA) refers to kidney tubulopathies that present metabolic acidosis with a normal anion gap due to diminished tubular reabsorption of bicarbonate (HCO3-) and/or reduced urinary excretion of hydrogen ions (H+). Distal renal tubular acidosis (dRTA), also known as type 1 RTA, is caused by the inability of the distal tubule to secrete H+ and to reduce urinary pH, even in presence of systemic metabolic acidosis. dRTA can be primary or secondary. The primary form, predominant in pediatric patients, arises from genetic mutations affecting key proteins in distal tubule cells.
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Casas et al. (2024) studied this question.
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