Renal Tubular disorders

Renal tubular disorders are conditions that affect the channels and transporters of the renal tubular system. Patients with renal tubular disorders may have electrolyte abnormalities, an imbalance of acid-base homeostasis, and fluid loss. The conditions may be primary (genetic) or secondary (renal disease or drug toxicity).

Our Offerings

  • Renal Tubular Acidosis: Renal tubular acidosis is characterized by the failure of the kidney to remove acid from the blood, which results in acid accumulation in the blood. The symptoms experienced by patients with type 1 and type 2 renal tubular acidosis include an irregular heartbeat, extreme weakness, paralysis, and death, as renal tubular acidosis results in low levels of bicarbonate and potassium. Patients with type 4 renal tubular acidosis have low levels of bicarbonates and high levels of potassium in the blood. The symptoms of type 4 renal tubular acidosis are weak muscles, abdominal pain, change in weight, loss of appetite, and persistent fatigue.
  • Bartter Syndrome: Patients with Bartter syndrome cannot reabsorb sodium and chloride ions, thus failing to concentrate urine. It results in increased urination, salt wasting, and volume depletion. Increased sodium elimination results in increased excretion of potassium, leading to hypokalemia.
  • Gitelman Syndrome: Patients with Gitelman syndrome do not experience any symptoms during the early stage, and the condition is usually diagnosed during late childhood or early adulthood. It involves the loss of NaCl co-transporter, resulting in renal salt losses, metabolic alkalosis, and hypokalemia.
  • Gordon Syndrome: The characteristics of Gordon syndrome contrast with those of Gitelman syndrome. Patients with this condition have higher activity of the NaCl co-transporter. Symptoms of Gordon syndrome include hyperkalemia, hypertension, hypercalciuria, and metabolic acidosis.
  • Liddle syndrome: Principal cells in the collecting duct have an apical sodium channel (ENaC). The net effect of ENaC activity is increased sodium reabsorption and potassium secretion. Patients with Liddle syndrome have increased activity of ENaC, leading to hypertension, metabolic alkalosis, and hypokalemia.