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Familial juvenile hyperuricaemic nephropathy
Other Names for this Disease
- Gouty nephropathy, familial juvenile
- Juvenile gout
- Nephropathy, familial, with gout
- UMOD-related kidney disease
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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.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
Last updated: 11/3/2011
- 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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- Genetics Home Reference (GHR) contains information on Familial juvenile hyperuricaemic nephropathy. This website is maintained by the National Library of Medicine.
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- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Familial juvenile hyperuricaemic nephropathy. Click on the link to go to OMIM and review these resources.
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