Familial early-onset hyperuricemia and gout associated with a newly identified dysfunctional variant in urate transporter ABCG2
2019
Abstract
We herein report the case of one European family with early onset of hyperuricemia/gout of which female proband was found to have pediatric-onset hyperuricemia associated with a newly identified functionally null variant allele in ATP-binding cassette transporter G2 (ABCG2). Key message: Genetic dysfunction of ABCG2 is an important risk factor of familial early-onset hyperuricemia and gout.