The genetic defect is in the anion exchange protein gene SLC4A1 resulting in impaired excretion of hydrogen ions or renal acids in the distal renal tubules.
The genetic defect is in the sodium bicarbonate cotransporter gene SLC4A4 resulting in impaired reabsorption of bicarbonate ions in the proximal renal tubules and bicarbonate-wasting.
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.
Synonyms: Classic Type RTA, RTA, Distal Type, Autosomal Dominant, Renal Tubular Acidosis I, Gradient Type RTAs, RTAs, Proximal Type, Renal Tubular Acidosis II, Renal Tubular Acidosis, Type I, RTA, Classic Type, Renal Tubular Acidosis, Classic Type RTAs, Proximal Type RTA, Acidosis, Renal Tubular, Type I, RTAs, Classic Type, Renal Tubular Acidosis 1, Classic Distal Renal Tubular Acidosis, Proximal Renal Tubular Acidosis, RTAs, Gradient Type, Renal Tubular Acidosis, Type II, Renal Tubular Acidosis, Proximal, Type II Renal Tubular Acidosis, Renal Tubular Acidosis, Proximal, with Ocular Abnormalities, Type I Renal Tubular Acidosis, RTA, Proximal Type, Autosomal Dominant Distal Renal Tubular Acidosis, Acidosis, Renal Tubular, RTA, Gradient Type, Acidosis, Renal Tubular, Type II, Distal Renal Tubular Acidosis, Proximal Type RTAs, Gradient Type RTA, Renal Tubular Acidosis, Distal, Autosomal Dominant
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D000141