Abstract: Objectives To explore the clinical significance of uromodulin (Tamm Horsfall protein) gene mutations in the diagnosis of familial hyperuricemia and/or familial renal tubular interstitial nephropathy. Methods Mutations in the Tamm-Horsfall protein gene were screened by PCR and sequencing in the 20 patients clinically diagnosed with familial hyperuricemia or familial renal tubular interstitial nephropathy. Results We found 5 patients with mutations in the Tamm Horsfall protein gene. Two of them have been reported by us, and 3 of them carried two new missense mutations (c.1153C>T, p.Arg385Trp; c.197T>C, p.Leu66Pro) and one new deletion mutation (272delC) that have not been reported previously. Conclusion We found 3 new mutations in Tamm Horsfall protein gene by mutation screening in Chinese patients, which extends the mutation spectrum of Tamm Horsfall protein gene.

Key words: Familiar hyperuricemia, Chronic tubular interstitial nephropathy,, Uromodulin, gene mutation