Familial juvenile hyperuricaemic nephropathy.
Sir,

We would like to take this opportunity to provide some updated information regarding the pathogenesis of familial juvenile hyperuricaemic nephropathy (FJHN). There has been discussion in recent months in QJM as to whether hyperuricaemia is a primary or secondary effect of the disease.1,,2 In a Letter to the Editor from QJM, February 2003,1 it was stated by Drs Puig and Torres that an ‘ … unresolved aspect of FJHN is the gene defect.’ In December 2002, we reported mutation in the uromodulin gene as a cause of FJHN in three kindreds.3 We then identified an …