What is the role of genetics in Fanconi syndrome?

Updated: Feb 09, 2018
  • Author: Sahar Fathallah-Shaykh, MD; Chief Editor: Craig B Langman, MD  more...
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Answer

A study sought to determine the genetic cause and underlying defect of Fanconi's syndrome by clinically and genetically characterizing members of a five-generation black family with isolated autosomal dominant Fanconi's syndrome. The study found that the mistargeting of peroxisomal EHHADH disrupts mitochondrial metabolism and leads to renal Fanconi's syndrome. This finding indicates a central role of mitochondria in proximal tubular function. [1]

Whether these findings can be extended to the idiopathic form of Fanconi syndrome is unknown.


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