Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Familial Juvenile Hyperuricemic Nephropathy and Uromodulin Gene Mutation

  • Lee, Young-Ki (Department of Internal Medicine, Hallym Kidney Research Institute, Hallym University College of Medicine) ;
  • Lee, Dong Hun (Department of Internal Medicine, Hallym Kidney Research Institute, Hallym University College of Medicine) ;
  • Noh, Jung-Woo (Department of Internal Medicine, Hallym Kidney Research Institute, Hallym University College of Medicine)
  • Received : 2013.05.25
  • Accepted : 2013.06.07
  • Published : 2013.06.30
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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.

Keywords

References

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