Familial Juvenile Hyperuricemic Nephropathy and Uromodulin Gene Mutation
Journal of Genetic Medicine
;
: 7-12, 2013.
Artículo
en Inglés
| WPRIM
| ID: wpr-83948
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Ácido Úrico
/
Alopurinol
/
Hiperuricemia
/
Insuficiencia Renal Crónica
/
Uromodulina
/
Gota
/
Enfermedades Renales
/
Fallo Renal Crónico
Idioma:
Inglés
Revista:
Journal of Genetic Medicine
Año:
2013
Tipo del documento:
Artículo
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