Wolcott-Rallison综合征(WRS)以永久性新生儿糖尿病、多发性骨骺发育不良为主要临床表现,致病基因为编码真核生物翻译起始因子2a激酶3的基因。WRS综合征发病率极低,预后欠佳,患儿多于幼年死亡。本文就WRS综合征的遗传发病机制及诊疗进展进行综述,以提高临床医师对本病的认识。 Wolcott-Rallison syndrome (WRS) with permanent neonatal diabetes, multiple epiphyseal dysplasia as the main clinical manifestations of pathogenic genes encoding eukaryotic translation initiation factor 2a kinase 3 genes. The incidence of WRS syndrome is extremely low with poor prognosis and more deaths in infants than in juveniles. This article summarizes the genetic pathogenesis of WRS syndrome and the progress of diagnosis and treatment, in order to improve clinicians understanding of the disease.