Noonan综合征的临床实践指南

Clinical practice guidelines for Noonan syndrome

Noomm综合征是一种以特殊面容、身材矮小、先天性心脏病和胸廓畸形等为主要表现的常见遗传综合征,其发病主要与RAS-MAPK信号通路异常相关。现已明确PTTN11、S OS1、RAF1、KRAS等至少16种基因与Noonan综合征等发病相关。国内目前对于Noonan综合征的诊治仍缺乏经验。本文对Noonan综合征的临床表现、发病机制、诊断标准、治疗方案等进行了总结,旨在提高中国的医务工作者对Noonan综合征的诊断水平,并对患者的临床管理提供建议。

Noonan syndrome is a common genetic disease characterized by peculiar face,short stature,congenital heart disease and thoracic deformity.The pathogenesis of Noonan syndrome is mainly related to abnormal Ras-MAPK signal pathway which involves more than 16 genes including PTPN11.SOS1,RAF1 and KRAS.At present,there is a lack of experience in the diagnosis and treatment of Noonan syndrome in China.This guideline has summarized the clinical manifestation,pathogenesis,diagnostic criteria and treatment for Noonan syndrome,with an aim to improve the diagnostic level and clinical management of patients with this syndrome.