Renal Tubular Acidosis (RTA)

A genetic disorder in which the renal tubule within the NEPHRON fails to release hydrogen ions into the filtrate. The consequence is a buildup of acid in the BLOOD (serum acidosis) that causes various symptoms and imbalances among the body’s electrolytes. There are numerous forms of renal tubular acidosis (RTA), most of which are random (sporadic) though some types are familial. Common forms of RTA include

• type 1 RTA, which affects the distal tubule and may occur secondary to AUTOIMMUNE DISORDERS such as SJÖGREN’S SYNDROME or after KIDNEY TRANSPLANTATION
• type 2 RTA, which affects the proximal tubule and often accompanies conditions such as WILSON’S DISEASE, FANCONI’S SYNDROME, MULTIPLE MYELOMA, and HYPERPARATHYROIDISM as well as after kidney transplantation
• type 4 RTA, which may accompany NEPHROPATHY of DIABETES or HIV/AIDS, SYSTEMIC LUPUS ERYTHEMATOSUS (SLE), and SICKLE CELL DISEASE

The diagnostic path includes blood tests and URINE tests that measure acidity. Treatment is usually medication (pharmaceutical sodium bicarbonate) to maintain the blood’s pH (acidity level) within the desired range and regular blood or urine tests to measure acidity.

See also GENETIC DISORDERS; GLOMERULUS; HYPERKALEMIA; INHERITANCE PATTERNS.

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