Rheumatology International

, Volume 32, Issue 11, pp 3687–3690

Tophus gout and chronic kidney disease in a young female patient: report of familial juvenile hyperuricemic nephropathy in three generations of the same family

  • Marta M. C. Medeiros
  • Geraldo B. SilvaJr
  • Elizabeth F. Daher
Short Communication

DOI: 10.1007/s00296-011-2106-5

Cite this article as:
Medeiros, M.M.C., Silva, G.B. & Daher, E.F. Rheumatol Int (2012) 32: 3687. doi:10.1007/s00296-011-2106-5


A 20-year-old female was admitted with tophus gout and chronic kidney disease (CKD), progressing to dialysis need and death. The familial investigation evidenced several cases of hyperuricemia, gout and CKD, as well as several cases of early death due to CKD. After analyzing these cases, it was concluded that the diagnosis was familial juvenile hyperuricemic nephropathy. This is an autosomal dominant disorder caused by mutations in the uromodulin gene, characterized by early beginning hyperuricemia and gout, in men and women, associated with progressive CKD.


Gout Hyperuricemia Chronic kidney disease Hyperuricemic nephropathy 

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Marta M. C. Medeiros
    • 1
    • 3
  • Geraldo B. SilvaJr
    • 1
    • 2
  • Elizabeth F. Daher
    • 1
    • 4
  1. 1.Department of Internal Medicine, School of MedicineFederal University of CearáFortalezaBrazil
  2. 2.School of MedicineHealth Sciences Center, University of FortalezaFortalezaBrazil
  3. 3.Departamento de Medicina ClínicaUniversidade Federal do CearáFortalezaBrazil
  4. 4.Brazilian Research Council (CNPq)BrasiliaBrazil

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