: MeSH: Acidosis, Renal Tubular

Nutritional and Metabolic Diseases > Metabolic Diseases > Acid-Base Imbalance > Acidosis > Acidosis, Renal Tubular

... > Female Urogenital Diseases > Urologic Diseases > Kidney Diseases > Renal Tubular Transport, Inborn Errors > Acidosis, Renal Tubular

... > Male Urogenital Diseases > Urologic Diseases > Kidney Diseases > Renal Tubular Transport, Inborn Errors > Acidosis, Renal Tubular

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Renal Tubular Transport, Inborn Errors > Acidosis, Renal Tubular

Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Renal Tubular Transport, Inborn Errors > Acidosis, Renal Tubular

Acidosis, Renal Tubular

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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. 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. 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.

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