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 General Pediatrics, Renal Disease

Fanconi syndrome

Fanconi syndrome

Kidney anatomy
Kidney anatomy

Definition:

Fanconi syndrome is a disorder of the kidney tubes in which certain substances normally absorbed into the bloodstream by the kidneys are released into the urine instead.

Alternative Names:
De Toni-Fanconi syndrome
Causes, incidence, and risk factors:

Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown.

Common causes of Fanconi syndrome in children are genetic defects that affect the body's ability to break down certain compounds such as:

Cystinosis is the most common cause of Fanconi syndrome in children.

Other causes in children include:

  • Exposure to heavy metals such as lead, mercury, and cadmium
  • Lowe's disease, a rare genetic disorder of the eyes, brain, and kidneys
  • Wilson's disease

In adults, Fanconi syndrome can be caused by various things that damage the kidneys, including:

Symptoms:
  • Passing large amounts of urine, which can lead to dehydration
  • Bone pain
  • Weakness
Signs and tests:

Laboratory tests may show that excess amounts of the following substances may be lost in the urine:

Loss of these substances can lead to a variety of problems. Further tests and a physical exam may show signs of:


Review Date: 11/12/2007
Reviewed By: Charles Silberberg, D.O., Private Practice specializing in Nephrology, Affiliated with NY Medical College, Division of Nephrology, Valhalla, NY. Review provided by VeriMed Healthcare Network.

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