Familial juvenile hyperuricaemic nephropathy
Other Names for this Disease
- Juvenile gout
- Gouty nephropathy, familial juvenile
- Nephropathy, familial, with gout
- Uromodulin-associated kidney disease
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.
- Genetics Home Reference (GHR) contains information on Familial juvenile hyperuricaemic nephropathy. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a 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.