Definition: A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS.
Other names Type II Renal Tubular Acidosis; Type I Renal Tubular Acidosis; Renal Tubular Acidosis, Type II; Renal Tubular Acidosis, Type I; Renal Tubular Acidosis; Renal Tubular Acidosis, Proximal, with Ocular Abno; Renal Tubular Acidosis, Distal, Autosomal Dominant; Proximal Renal Tubular Acidosis; Distal Renal Tubular Acidosis; Classic Distal Renal Tubular Acidosis; Acidosis, Renal Tubular, Type II; Acidosis, Renal Tubular, Type I