Introduction to Renal Transport Abnormalities

Many substances are secreted or reabsorbed in the renal tubule system, including electrolytes, protons, bicarbonate molecules, glucose, uric acid, amino acids, and free water. Dysfunction of these processes can result in clinical syndromes.

Syndromes are inherited, acquired, or both. Some syndromes almost always manifest in childhood, including

• Bartter syndrome

• Gitelman syndrome

• Cystinuria

• Hartnup disease

• Hypophosphatemic rickets

Other syndromes affecting renal tubules may manifest in either adults or children, including

• Fanconi syndrome

• Liddle syndrome

• (formerly known as nephrogenic diabetes insipidus)

• Pseudohypoaldosteronism type I

• Renal glucosuria

• Renal tubular acidosis