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Case Reports
. 1991 Jun;35(6):263-9.

Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease

F Moro  1 , C S Ogg, H A Simmonds, J S Cameron, C Chantler, M B McBride, J A Duley, P M Davies
Affiliations
  • PMID: 1873940
Case Reports

Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease

F Moro et al. Clin Nephrol. 1991 Jun.

Abstract

This paper reports investigations in a young woman with renal disease and six other seemingly healthy young members of a new kindred (four male:two female) with familial juvenile gouty nephropathy (McKusick 16200). The family had previously been known to have a "familial" renal disease, but came to attention through an isolated episode of gout in the propositus when renal function was already impaired. A reduced GFR was found in three of the other six subjects. Hyperuricemia associated with a grossly reduced fractional uric acid clearance (Cur/Ccr x 100) was present in the propositus and five kindred members, three of whom were children. The finding of this abnormality in two subjects with normal GFR suggests that this apparent hallmark of the disease precedes the onset of renal damage. The results confirm the dominant nature of the disorder, and highlight the need to investigate all kindred members of patients with juvenile gout and renal failure. Early recognition is important, since allopurinol therapy in doses adjusted to the reduced renal function may ameliorate the progression of the renal lesion.

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