Fanconi syndrome

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Disease Overview

Fanconi syndrome (FS) affects the way the kidneys work. In FS, the kidneys do not properly absorb electrolytes and other substances into the body. Symptoms can begin at any age. They may include slow growth, fragile bones, frequent urination, and dehydration. Other symptoms include weakness, tremors, and fatigue. FS can occur as an isolated condition or as part of other diseases. Isolated FS may be caused by genetic variants in one of several different genes, and can be inherited in families. FS can also occur as part of another condition or as a side effect of certain medications and other environmental exposures. Diagnosis is based on the symptoms, clinical exam, and urine testing. Treatment depends on the cause, and is focused on managing the symptoms.[15819][15820][15821][15822] 


Synonyms

  • Primary Fanconi renotubular syndrome
  • Fanconi renotubular syndrome
  • Primary Fanconi syndrome

For more information, visit GARD.

National Organization for Rare Disorders