Primary portal vein hypoplasia and SLC2A9 mutation associated with urate urolithiasis in a Spanish Water Dog

Summary

This report describes a Spanish Water Dog with an ammonium urate urethrolith which was diagnosed with primary portal vein hypoplasia and was found to be homozygous for the mutated SLC2A9 gene. This is the first Spanish Water Dog described with the SLC2A9 mutation and the first case of concurrent portal vascular abnormalities and SLC2A9 mutation.