Section 11. Kidney and Urinary Tract Disorders

Chapter 146. Tubular and Cystic Kidney Disorders

Topics: Introduction | Renal Tubular Acidosis | Renal Glucosuria | Nephrogenic Diabetes Insipidus | Cystinuria | Fanconi's Syndrome | Hypophosphatemic Rickets | Hartnup Disease | Bartter's Syndrome | Liddle's Syndrome | Polycystic Kidney Disease | Medullary Cystic Disease | Medullary Sponge Kidney | Alport's Syndrome | Nail-Patella Syndrome

Fanconi's Syndrome

Fanconi's syndrome is a rare disorder of tubule function that results in excess amounts of glucose, bicarbonate, phosphates, uric acid, potassium, sodium, and certain amino acids being excreted in the urine.

Fanconi's syndrome may be hereditary or may be caused by exposure to heavy metals or other chemical agents, vitamin D deficiency, kidney transplantation, multiple myeloma, or amyloidosis.

Symptoms and Diagnosis

In hereditary Fanconi's syndrome, symptoms usually begin during infancy. A child with Fanconi's syndrome may excrete a large amount of urine. Other symptoms include weakness and bone pain.

The symptoms and a test that shows a high level of acid in the blood may lead a doctor to suspect Fanconi's syndrome. The diagnosis is confirmed when high levels of glucose, bicarbonate, phosphate, uric acid, potassium, and sodium are detected in the urine. Most often, some damage to bones or kidney tissue has occurred before the diagnosis is made.

Treatment

Fanconi's syndrome cannot be cured, but it can be controlled with proper treatment. Effective treatment can keep the damage to bones or kidney tissue from getting worse and in some cases correct it. The high acid level of the blood (acidosis) may be neutralized by drinking sodium bicarbonate. People with low potassium levels in the blood may need to take potassium supplements by mouth. Bone disease requires treatment with phosphates and vitamin D supplements given by mouth. Kidney transplantation may be lifesaving if a child with the disorder develops kidney failure.