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Genetic and Rare Diseases Information Center (GARD)

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Familial juvenile hyperuricaemic nephropathy


Other Names for this Disease
  • FJHN
  • Gouty nephropathy, familial juvenile
  • Juvenile gout
  • Nephropathy, familial, with gout
  • UMOD-related kidney disease
More Names
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Overview


Familial juvenile hyperuricaemic nephropathy (FJHN) is an inherited condition that affects the kidneys. The signs and symptoms vary, even among members of the same family. Many individuals with this condition develop high blood levels of a waste product called uric acid. Normally, the kidneys remove uric acid from the blood and transfer it to urine. In FJHN, the kidneys are unable to remove uric acid from the blood effectively. Beginning in the early teens, FJHN causes gout and slowly progressive kidney disease, resulting in kidney failure. People with FJHN typically require either dialysis to remove wastes from the blood or a kidney transplant. FJHN is caused by mutations in the UMOD gene and is inherited in an autosomal dominant fashion.[1]
Last updated: 11/3/2011

References

  1. Uromodulin-associated kidney disease. Genetics Home Reference. December 2009; http://ghr.nlm.nih.gov/condition/uromodulin-associated-kidney-disease. Accessed 11/3/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Familial juvenile hyperuricaemic nephropathy. This website is maintained by the National Library of Medicine.

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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial juvenile hyperuricaemic nephropathy. Click on the link to view a sample search on this topic.