Hyperuricemia in adolescents: four case series and literature review / 中华内分泌代谢杂志

ABSTRACT

Objective:To summarize and analyze the clinical characteristics of hyperuricemia in adolescents, and improve the awareness of diagnosis and treatment among clinicians.Methods:Four adolescent cases of hyperuricemia with a clear family history were admitted to the Department of Endocrinology, Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology from November 2015 to August 2021. Their clinical manifestations, laboratory tests, gene sequencing, and therapeutic effects were analyzed.Results:Among the 4 patients, there were 2 cases with mutation in uromodulin(UMOD)gene(c.453C>T, 1 homozygous mutation in p. C151C; c. 453C>Y, 1 heterozygous mutation in p. C151C); 1 case with compound heterozygous mutation in adenosine triphosphate binding cassette transporter G2(ABCG2)gene(c.421C>A p. Q141K; c. 34G>A p. V12M); and 1 case with homozygous mutation in the ABCG2 gene(c.421C>A, p. Q141K). The blood uric acid levels of 4 patients decreased significantly after medical treatment and lifestyle interventions.Conclusions:In addition to primary etiology, the cause of hyperuricemia in the adolescent can be associated with certain acute and chronic diseases as well as genetic conditions. Genetic testing is recommended for patients with a family history. Medication safety should be stressed in the treatment of adolescents.