努南综合征身材矮小的发病机制和治疗研究进展  

Advances in the pathogenesis and treatment of short stature in Noonan syndrome

作　　者：曹晴(综述) 武苏(审校)[2] 刘倩琦(审校)[1] Cao Qing;Wu Su;Liu Qianqi(Department of Child Health Care,Children′s Hospital of Nanjing Medical University,Nanjing 210008,China;Department of Endocrinology,Children′s Hospital of Nanjing Medical University,Nanjing 210008,China)

机构地区：[1]南京医科大学附属儿童医院儿童保健科,210008 [2]南京医科大学附属儿童医院内分泌科,210008

出　　处：《国际儿科学杂志》2023年第7期456-459,共4页International Journal of Pediatrics

摘　　要：努南综合征(Noonan syndrome,NS)是一种累及多系统的遗传性疾病,以特殊面容、身材矮小、心脏缺陷、发育迟缓、胸廓畸形为主要临床表现。身材矮小是NS患者就诊的主要原因之一,高达70%的NS患者存在身材矮小。NS发病与丝裂原活化蛋白激酶信号传导通路的信号上调相关,但具体机制仍需进一步研究。重组人生长激素治疗已被批准用于身材矮小的NS患者,且取得了良好的治疗效果。但在重组人生长激素治疗的药物剂量、影响因素、长期疗效及风险等方面的认识仍存在不足。该文综述NS身材矮小的发病机制及治疗研究进展,为该病的临床治疗及管理提供帮助。Noonan syndrome(NS)is an inherited disease involving multiple systems.The main clinical manifestations include distinctive facial features,short stature,heart defects,developmental delay and chest deformity.Short stature,reported in up to 70%of NS patients,is one of the main reasons NS patients seek medical treatment.The pathogenesis is associated with the up-regulation of RAS-mitogen activated protein kinase(RAS-MAPK)signal pathway.Further study is needed for some further specific mechanisms.Recombinant human growth hormone(rhGH)therapy has been approved for NS patients with short stature and has achieved a good therapeutic effect.However,the knowledge of drug dosage,influencing factors,long-term efficacy and risk of rhGH treatment is still insufficient.This paper reviews the pathogenesis and treatment of short stature in NS,providing help for the treatment and management of the disease.

关 键 词：努南综合征 身材矮小 发病机制 重组人生长激素治疗 

分 类 号：R725.9[医药卫生—儿科]