Familial Juvenile Hyperuricemic Nephropathy and Uromodulin Gene Mutation
Journal of Genetic Medicine
; : 7-12, 2013.
Article
de En
| WPRIM
| ID: wpr-83948
Bibliothèque responsable:
WPRO
ABSTRACT
Familial Juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal dominant disorder, characterized by early onset of hyperuricemia, gout and progressive kidney disease. Hyperuricemia prior to renal impairment and decreased fractional excretion of uric acid are hallmarks of FJHN. Renal dysfunction gradually appears early in life and results in end-stage renal disease usually between the ages of 20 and 70 years. FJHN is mostly caused by mutations in the uromodulin gene located at 16p12. The course of FJHN is highly variable. Treatment includes management for hyperuricemia, gout and progressive kidney disease. Individuals with gout have been usually treated with allopurinol. But controversy exists as to whether uric acid lowering therapy prevents the progression of chronic kidney disease.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Acide urique
/
Allopurinol
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Hyperuricémie
/
Insuffisance rénale chronique
/
Uromoduline
/
Goutte
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Maladies du rein
/
Défaillance rénale chronique
langue:
En
Texte intégral:
Journal of Genetic Medicine
Année:
2013
Type:
Article