Renal tubular defects: Pathology review

Renal tubular defects refer to a group of disorders that affect the tubules of the kidneys. These tubules are responsible for filtering waste products from the blood, reabsorbing essential nutrients, and regulating the balance of electrolytes in the body. When these tubules are damaged or malfunctioning, they can lead to a variety of symptoms and complications, such as electrolyte imbalances, acid-base disturbances, and kidney failure. Some examples of renal tubular defects include Fanconi syndrome, Bartter syndrome, and Gitelman syndrome.

In Fanconi syndrome, there is a dysfunction of the proximal convoluted tubule (PCT), which results in the excretion of all substances normally reabsorbed by the PCT, such as glucose, bicarbonate, etc. In Bartter syndrome, there are defects in Na+/K+/2Cl- cotransporter in the thick ascending loop of Henle, which lead to metabolic alkalosis, hypokalemia, and hypercalciuria. Finally, in Gitelman syndrome, there is defective reabsorption of sodium chloride in the distal convoluted tubules (DCT), which leads to metabolic alkalosis, hypomagnesemia, hypokalemia, and hypocalciuria. Treatment options may include medications, dietary changes, and in some cases, kidney transplants.