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Gout as a Manifestation of Familial Juvenile Hyperuricemic Nephropathy

Spain, Heather BS*; Plumb, Troy MD*; Mikuls, Ted R. MD, MSPH*†

JCR: Journal of Clinical Rheumatology: December 2014 - Volume 20 - Issue 8 - p 442–444
doi: 10.1097/RHU.0000000000000188
Case Report
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We report 2 cases of familial juvenile hyperuricemic nephropathy, a rare autosomal dominant disorder characterized by uromodulin gene mutations leading to hyperuricemia secondary to profound renal uric acid underexcretion, gout, and chronic renal disease. Case 1 involves a 56-year-old woman who underwent a kidney transplant after steady decline in kidney function since the age of 19 years. Her gout had been successfully controlled with varying doses of daily allopurinol. Case 2, the son of case 1, presented with already progressive and debilitating arthritis at the age of 34 years with relatively stable chronic renal failure that was also subsequently managed with daily allopurinol and judicious anti-inflammatory prophylaxis.

From the *Department of Medicine, University of Nebraska Medical Center; and †Omaha Veterans Affairs Medical Center, Omaha, NE.

The authors declare no conflict of interest.

Correspondence: Ted R. Mikuls, MD, MSPH, 986270 Nebraska Medical Center, Omaha, NE 68198. E-mail tmikuls@unmc.edu.

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