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Fanconi Syndrome (also known as Fanconi’s syndrome) is a disorder in which the proximal tubular function of the kidney is impaired,[1] resulting in decreased reabsorption of electrolytes and nutrients back into the bloodstream. Compounds involved include glucose, amino acids, uric acid, phosphate and bicarbonate.
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.
It is named after Guido Fanconi, a Swiss pediatrician; this may be a misnomer since Fanconi himself never identified it as a syndrome.
It should not be confused with Fanconi anemia, a separate disease.
Are the clinical features of proximal renal tubular acidosis:
And the other features of the generalized proximal tubular dysfunction of the Fanconi syndrome
There are different diseases underlying Fanconi syndrome. They can be inherited/congenital as well as acquired.
[tubepress mode=’tag’, tagValue=’Fanconi syndrome’]