There is a selective defect in proximal tubule in acidifying urine that results in metabolic acidosis. Carbonic anhydrase enzyme is inhibited, defective or there is associated Fanconi syndrome.Proximal Renal Tubular Acidosis (Type II) is a disease that occurs when the kidneys don’t properly remove acids from the blood into the urine. As a result, too much acid remains in the blood (called acidosis).

Causes of Proximal Renal Tubular Acidosis

When the body performs its normal functions, it produces acid. If this acid is not removed or neutralized, the blood will become too acidic. This can lead to electrolyte imbalances in the blood. It can also cause problems with normal function of some cells.

The kidneys help control the body’s acid level by removing acid from the blood and excreting it into the urine. Acidic substances in the body are neutralized by alkaline substances, mainly bicarbonate.

Proximal renal tubular acidosis (Type II RTA) occurs when bicarbonate is not properly reabsorbed by the kidney’s filtering system.

Type II RTA is less common than Type I RTA. Type II most often occurs during infancy and may go away by itself.

Causes of type II RTA includes in further

• Cystinosis (body is unable to break down the substance cysteine)
• Drugs such as ifosfamide (a chemotherapy drug), certain antibiotics that are no longer used much (tetracycline),  or acetazolamide
• Fanconi Syndrome
• Inherited fructose intolerance
• Multiple myeloma
• Primary hyperparathyroidism
• Sjogren syndrome
• Wilson disease
• Vitamin D deficiency

Clinical Features of PRTA

Due to acidemia : Growth retardation, anorexia, malnutrition, volume depletion.

Due to potassium depletion : Muscle weakness, polyuria, polydipsia, nocturia.

Due to defective Calcium / phosphate / Vitamin D/ Parathormone metabolism : Osteomalacia, other bone disease.

Symptoms of PRTA

Symptoms of distal renal tubular acidosis include any of the following:

• Confusion or decreased alterness
• Dehydration
• Fatigue
• Increased breathing rate
• Osteomalacia
• Muscle pain
• Rickets
• Weakness

Other symptoms can include:

• Decreased urine output
• Increased heart rate or irregular heartbeat
• Muscle cramps
• Pain in the bones, back, flank, or abdomen
• Skeletal deformities

Diagnosis of PRTA

Hyperchloremic, hypokalemic metabolic acidosis, Acidic urine.

Treatment for PRTA

Therapy of underlying disease and removal of nephrotoxin

Large amounts of sodium and potassium bicarbonate, diuretics.

Prognosis of PRTA

Although the underlying cause of proximal renal tubular acidosis may go away by itself, the effects and complications can be permanent or life-threatening. Treatment is usually successful.

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