TY - JOUR
T1 - Gout as a manifestation of familial juvenile hyperuricemic nephropathy
AU - Spain, Heather
AU - Plumb, Troy
AU - Mikuls, Ted R.
PY - 2014/12/11
Y1 - 2014/12/11
N2 - 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-yearold 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 antiinflammatory prophylaxis.
AB - 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-yearold 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 antiinflammatory prophylaxis.
KW - Chronic renal disease
KW - Early-onset gout
KW - Familial juvenile hyperuricemic nephropathy
UR - http://www.scopus.com/inward/record.url?scp=84916597233&partnerID=8YFLogxK
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U2 - 10.1097/RHU.0000000000000188
DO - 10.1097/RHU.0000000000000188
M3 - Article
C2 - 25417683
AN - SCOPUS:84916597233
VL - 20
SP - 442
EP - 444
JO - Journal of Clinical Rheumatology
JF - Journal of Clinical Rheumatology
SN - 1076-1608
IS - 8
ER -