Fanconi syndrome


Fanconi syndrome is a hereditary or acquired disease of the renal proximal tubules, without primary involvement of kidney glomeruli, and is characterized by the tubular wasting of nutrients and salts, which are released into the urine. Clinical features include hypokalaemia, acidosis, hypercalciuria and proteinuria.

Latest Research and Reviews

  • Reviews |

    One of the first manifestations of cystinosis is a renal Fanconi syndrome, characterized by severe dysfunction of proximal tubule cells. This Review describes the pathogenesis of renal Fanconi syndrome in cystinosis, focusing on the importance of cystinosin in the maintenance of cellular homeostasis beyond its function in cystine transport.

    • Stephanie Cherqui
    •  & Pierre J. Courtoy
  • Reviews |

    Since the approval of deferasirox for patients with blood-transfusion-related iron overload by the FDA in 2005, >150,000 patient-years of exposure have occurred. However, nephrotoxicity is a common adverse effect of deferasirox therapy and the drug remains a medicine under additional monitoring status. Here, Díaz-García et al. review the clinical features, epidemiology and current understanding of the molecular mechanisms of deferasirox nephrotoxicity.

    • Juan Daniel Díaz-García
    • , Angel Gallegos-Villalobos
    • , Liliana Gonzalez-Espinoza
    • , Maria D. Sanchez-Niño
    • , Jesus Villarrubia
    •  & Alberto Ortiz

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