高尿酸血症的遗传学进展

Progress in Genetics of Hyperuricemia

高尿酸血症(HUA)是由各种因素引起的尿酸生成过多或排泄减少,以血尿酸升高为特点的代谢性疾病。目前,HUA的发病机制尚不明确,除常见的外在因素(饮酒、高脂高糖饮食、疲劳、应激等)外,还包括遗传因素(如影响尿酸生成、排泄的基因)。尿酸生成主要是由于磷酸核糖焦磷酸合成酶1过度激活以及次黄嘌呤鸟嘌呤磷酸核糖基转移酶1功能缺陷,影响其重吸收的基因包括溶质载体(SLC)22A/2A家族成员,影响其排泄的基因包括SLC22A/17A家族成员、ATP结合盒转运蛋白G超家族成员2等。深入研究HUA的遗传学进展,可为HUA的防治提供新思路。

Hyperuricemia(HUA)is a metabolic disorder of overproduction of uric acid or decreased excretion caused by several factors and characterized with elevated serum uric acid levels.Currently,mechanisms of HUA still remain to be explored,which,besides the common external causes such as alcohol,high-fat and high-glucose diet,fatigue and stress,also include genetic factors,such as genes associated with generation and excretion of uric acid.Phosphoribosyl pyrophosphate synthase 1 overexpression and hypoxanthine-guanine phosphoribosyl transferase 1 functional defects affect uric acid production,and genes affecting its reabsorption include solute carrier(SLC)22A/2A family members,and genes affecting its excretion include SLC22A/17A family members and ATP-binding cassette transporter protein G superfamily member 2,etc.In-depth study of the progress of HUA genetics can provide new ideas for the prevention and treatment of HUA.