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Genetic and Rare Diseases Information Center (GARD)

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Fanconi renotubular syndrome


Other Names for this Disease
  • Adult Fanconi syndrome
  • Fanconi syndrome without cystinosis
  • FRTS
  • Renal Fanconi syndrome
  • RFS
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Overview


Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body.  These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine.  Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age.  Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.[1][2]
Last updated: 3/11/2012

References

  1. Fanconi syndrome. MedlinePlus. February 2012; http://www.nlm.nih.gov/medlineplus/ency/article/000333.htm. Accessed 3/6/2012.
  2. Fathallah-Shaykh S. Fanconi syndrome. eMedicine. August 2011; http://emedicine.medscape.com/article/981774-overview#a0101. Accessed 3/2/2012.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Fanconi renotubular syndrome. Click on the link to view a sample search on this topic.