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KMID : 1189120130100010007
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대한의학유전학회지
2013 Volume.10 No. 1 p.7 ~ p.12
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Familial Juvenile Hyperuricemic Nephropathy and Uromodulin Gene Mutation
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Lee Young-Ki
Lee Dong-Hun
Noh Jung-Woo
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Abstract
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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.
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KEYWORD
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Hyperuricemia, Uromodulin, Tamm-Horsfall protein, Mutation
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