What causes Fanconi syndrome?

Updated: Feb 09, 2018
  • Author: Sahar Fathallah-Shaykh, MD; Chief Editor: Craig B Langman, MD  more...
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Fanconi syndrome can be primary (inherited) or secondary (acquired). The only exception to this rule is the idiopathic form of the syndrome. Short descriptions of the various causes of Fanconi syndrome are as follows:

The idiopathic Fanconi syndrome occurs in the absence of any identifiable cause, and most cases are sporadic. Some cases are inherited, but the mode of inheritance appears to vary (autosomal dominant, autosomal recessive, X-linked). Not all manifestations of the syndrome are present at onset. Recurrent episodes of dehydration, rickets, and failure to thrive are the most common. Prognosis varies. Some patients develop renal failure in late childhood or early adulthood.

Several inborn errors of amino acid or carbohydrate metabolism are associated with Fanconi syndrome. All are inherited in an autosomal recessive pattern.

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