Fanconi Syndrome

Fanconi Syndrome, named for the Swiss pediatrician Guido Fanconi, is a rare disorder of the kidney tubes. The condition occurs when substances that are normally absorbed into the bloodstream become released into the urine instead. Other names for the condition include Fanconi’s Syndrome and De Toni-Fanconi Syndrome.

Causes Of The Disorder

Fanconi Syndrome can be hereditary, or it can occur from kidney damage. Often, it comes from exposure to heavy metals or chemicals. Sometimes, the cause in unknown.

In children, Fanconi Syndrome is usually caused by genetic defects that make it hard for the body to break down certain compounds like cystine, fructose, galactose, or glycogen. Lowe’s Disease and Wilson’s Disease can also cause the condition.

In adults, kidney damage is the most common cause. Damage can occur from a number of things–prescription medications, a kidney transplant, bone marrow cancer, fiber deposits in tissue and organs, and other diseases.

Symptoms Of The Disorder

Fanconi Syndrome has relatively few symptoms. The most common symptom is the passing of large amounts of urine. This can lead to dehydration. In addition, people with this disorder may experience bone pain and general body weakness.

Diagnosis And Complications

In order to determine what substances are being released into the urine instead of the bloodstream, doctors must perform a number of tests. Lab tests can show if too much of the following substances are being lost in the urine:

  • Amino acids
  • Bicarbonate
  • Glucose
  • Magnesium
  • Phosphate
  • Potassium
  • Sodium
  • Uris Acid

The loss of these substances can cause a number of medical problems. Severe dehydration, growth failure, bone softening, rickets, and kidney problems are some examples.

Treatment Of The Disorder

Treatment of Fanconi Syndrome depends on the underlying cause. Because many different diseases can cause the disorder, those diseases must be treated appropriately. Anyone who experiences dehydration or muscle weakness should seek medical attention.

 

 

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