The Fanconi syndrome is a renal disorder in which the proximal tubules function is impaired, which results in decreased reabsorption of electrolytes and nutrients back into the bloodstream. These nutrients and electrolytes are released into the urine instead. These released compounds include glucose, amino acids, uric acid, phosphate and bicarbonate. Although the cause of Falconi syndrome is unkown, it may be caused by faulty genes, or it may result later in life due to kidney damage.
The reduced reabsorption of bicarbonate results in Type 2 or Proximal renal tubular acidosis, which may in some cases exist on its own, or more usually in combination with the Fanconi syndrome. Common causes of Fanconi syndrome in children are genetic defects that affect the body's ability to break down certain compounds such as: cystine, fructose, galactose, glycogen. Cystinosis is the most common cause of Fanconi syndrome in children.
The Fanconi syndrome is named after Guido Fanconi, a Swiss pediatrician.