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 |

    Monoclonal immunoglobulin deposition produces complex diseases with heterogeneous phenotypes, making it difficult to identify the underlying mechanisms of immunoglobulin aggregation and deposition. In this Review, the authors discuss animal models of various human immunoglobulin deposition diseases, and each model's drawbacks and contributions to our understanding of these diseases.

    • Christophe Sirac
    • , Guillermo A. Herrera
    • , Paul W. Sanders
    • , Vecihi Batuman
    • , Sebastien Bender
    • , Maria V. Ayala
    • , Vincent Javaugue
    • , Jiamin Teng
    • , Elba A. Turbat-Herrera
    • , Michel Cogné
    • , Guy Touchard
    • , Nelson Leung
    •  & Frank Bridoux
  • Research | | open

    Nephropathic cystinosis is a lysosomal storage disease characterized by proximal tubular cell dysfunction. Here Festa and colleagues show that these lysosomal alterations lead to defective autophagic clearance of mitochondria and increased oxidative stress that, in turn, activates the transcription factor ZONAB leading to impaired cell differentiation.

    • Beatrice Paola Festa
    • , Zhiyong Chen
    • , Marine Berquez
    • , Huguette Debaix
    • , Natsuko Tokonami
    • , Jenny Ann Prange
    • , Glenn van de Hoek
    • , Cremonesi Alessio
    • , Andrea Raimondi
    • , Nathalie Nevo
    • , Rachel H. Giles
    • , Olivier Devuyst
    •  & Alessandro Luciani
  • 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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