proximal renal tubular acidosis

The loss of bicarbonate results in type 2 or proximal renal tubular acidosis.

The clinical features of proximal renal tubular acidosis are:

Other NBCe1 mutations disrupt kidney bicarbonate transport and cause proximal renal tubular acidosis.

Kidney disease (distal tubular acidosis and proximal renal tubular acidosis)

This does not usually cause clinical problems in childhood, with the occasional exception of a Fanconi syndrome with multiple derangements of renal tubular reabsorption, including proximal renal tubular acidosis with bicarbonate and phosphate wasting.

Renal tubular acidosis failure of HCO resorption(i.e., proximal renal tubular acidosis, or overdose of carbonic anhydrase inhibitor) or failure of H secretion (i.e. in distal renal tubular acidosis)