Definitions

Fanconi syndrome

Fanconi syndrome

Fanconi Syndrome (also known as Fanconi's syndrome) is a disorder in which the proximal tubular function of the kidney is impaired, 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.

Eponym

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.

Clinical features

Are the clinical features of proximal renal tubular acidosis:

And the other features of the generalized proximal tubular dysfunction of the Fanconi syndrome

Causes

There are different diseases underlying Fanconi syndrome. They can be inherited/congenital as well as acquired.

Inherited

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

Other recognised causes of Fanconi's syndrome are Wilson's disease (a genetically inherited condition of copper metabolism), Lowe Syndrome, Tyrosinemia (Type I), galactosemia, glycogen storage diseases, and fructose intolerance.

Two forms, Dent's disease and Lowe syndrome, are X linked.

Acquired

It is possible to acquire this disease later on in life.

Causes include ingesting expired tetracyclines, and as a side effect of tenofovir.

Monoclonal gammopathy of undetermined significance can also cause the condition.

Treatment

Treatment of children with Fanconi syndrome mainly consists of replacement of substances lost in the urine (mainly fluid and bicarbonate).

See also

References

External links

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