Gout as a manifestation of familial juvenile hyperuricemic nephropathy

Heather Spain, Troy J Plumb, Ted R Mikuls

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)442-444
Number of pages3
JournalJournal of Clinical Rheumatology
Volume20
Issue number8
DOIs
StatePublished - Dec 11 2014

Fingerprint

Gout
Allopurinol
Kidney
Uromodulin
Hyperuricemia
Uric Acid
Nuclear Family
Chronic Renal Insufficiency
Chronic Kidney Failure
Arthritis
Anti-Inflammatory Agents
Transplants
Mutation
Genes
Juvenile gout

Keywords

  • Chronic renal disease
  • Early-onset gout
  • Familial juvenile hyperuricemic nephropathy

ASJC Scopus subject areas

  • Rheumatology

Cite this

Gout as a manifestation of familial juvenile hyperuricemic nephropathy. / Spain, Heather; Plumb, Troy J; Mikuls, Ted R.

In: Journal of Clinical Rheumatology, Vol. 20, No. 8, 11.12.2014, p. 442-444.

Research output: Contribution to journalArticle

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