Which genetic disorders are known causes of Fanconi syndrome?

Updated: Feb 09, 2018
  • Author: Sahar Fathallah-Shaykh, MD; Chief Editor: Craig B Langman, MD  more...
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Mitochondrial cytopathies include a group of diseases characterized by myopathy, ataxia, seizures, and various other manifestations, including the Fanconi syndrome, determined by the specific tissue or tissues affected. The common denominator appears to be impaired oxidative phosphorylation due to alterations in mitochondrial DNA. Most patients present within the first months of life; few survive past age 1 year. Treatment, designed to emulate electron transport or to minimize free-radical damage, has met with little success.

Paroxysmal nocturnal hemoglobinuria has been rarely associated with Fanconi syndrome and is likely due to hemosiderin deposition in the proximal tubules. [5]

Microvillus inclusion disease, a rare congenital enteropathy associated with brush border atrophy with mutations in the MYO5B gene, has also been associated with Fanconi syndrome. [6]

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