Carney综合征的诊治现状及分子遗传学进展  

Current status of diagnosis,treatment and progress of genetics in Carney complex

作　　者：孟曦[1] 巩纯秀[1] MENG Xi;GONG Chunxiu(Department of Endocrine Genetic Metabolism,National Center for Children's Health,Beijing Children's Hospital,Capital Medical University,Beijing 100045,China)

机构地区：[1]国家儿童医学中心,首都医科大学附属北京儿童医院内分泌遗传代谢科,北京100045

出　　处：《世界临床药物》2021年第10期931-936,共6页World Clinical Drug

基　　金：北京市科技计划(2201100005520061)。

摘　　要：Carney综合征(Carney complex,CNC)是一种以皮肤及黏膜色素样变、多发性内分泌腺肿瘤综合征(multiple endocrine neoplasia)、多器官黏液瘤(myxoma)为主要特征的罕见综合征,绝大部分CNC患者可因出现皮肤病变、心脏黏液瘤或肾上腺皮质功能亢进(hypercorticism)等被确诊,但目前由于对CNC认识尚浅,临床医生易忽视对患者其他脏器病变的诊治。本文将根据既往文献,从CNC临床表现、诊治及分子遗传学研究进展等方面进行综述,以期为临床治疗提供新思路。Carney complex(CNC)is a rare syndrome characterized by skin and mucosal pigmentation,multiple endocrine neoplasia and multiple organ myxomas.Most CNC patients can be diagnosed with skin lesions,cardiac myxomas or hypercorticism.However,due to the shallow understanding of CNC,clinicians tend to ignore the diagnosis and treatment of other organ diseases.Based on previous literature,this paper reviewed the clinical manifestations,diagnosis,treatment and molecular genetic research progress of CNC,in order to provide new ideas for clinical diagnosis and treatment.

关 键 词：Carney综合征 内分泌肿瘤 PRKAR1A基因 

分 类 号：R725.8[医药卫生—儿科]