儿童心-面-皮肤综合征诊治研究进展  

Advances in diagnosis and treatment of cardio-facio-cutaneous syndrome in children

作　　者：冯碧云(综述) 李辛[1] 王秀敏(审校)[1] Feng Biyun;Li Xin;Wang Xiumin(Department of Endocrinology and Metabolism,Shanghai Children′s Medical Center,School of Medicine,Shanghai Jiao Tong University,Shanghai 200127,China)

机构地区：[1]上海交通大学医学院附属上海儿童医学中心内分泌遗传代谢科,200127

出　　处：《国际儿科学杂志》2023年第11期754-758,共5页International Journal of Pediatrics

基　　金：上海市科学技术委员会科技计划项目(No20MC1920400);浦东新区卫健委联合攻关项目(PW2021D-13)。

摘　　要：心-面-皮肤综合征(cardio-facio-cutaneous syndrome, CFCS)是一种罕见的遗传综合征, 与丝裂原活化蛋白激酶(RAS-mitogen-activated protein kinase, RAS-MAPK)信号传导通路异常激活有关, 由BRAF、MAP2K1、MAP2K2、KRAS基因生殖系突变所致, 呈常染色体显性遗传。CFCS患者表现为多系统异常, 包括颅面部畸形、先天性心脏病、皮肤异常、胃肠道异常、生长迟缓、神经认知障碍、癫痫等, 与其他RAS通路病患者有许多重叠的临床表型。CFCS患者可通过典型的临床表现和基因检测明确诊断, 早期诊断有助于评估相关基因型的严重并发症风险, 改善患者预后。MEK抑制剂可有效改善部分CFCS动物模型的异常表型, 但目前尚无有效的临床治疗方法, 明确诊断后需行多学科评估与对症治疗。Cardio-facio-cutaneous syndrome(CFCS)is a rare genetic syndrome associated with abnormal activation of RAS-mitogen-activated protein kinase(RAS-MAPK)signal transduction pathway.Causative genes are BRAF,MAP2K1,MAP2K2 and KRAS.CFCS is an autosomal dominant disorder characterized by dysmorphic craniofacial features,congenital heart disease,dermatologic abnormalities,gastrointestinal dysfunction,failure to thrive,neurocognitive delay and epilepsy,whose phenotype overlaps with many other RASopathies.Final diagnosis of CFCS can be reached by classical presentation and genetic testing.Early diagnosis helps to evaluate risk of severe complications of specific genotype and improve prognosis of CFCS patients.At present,there is no effective treatment of CFCS although inhibitors of MEK may improve partial phenotype of CFCS animal models.Once diagnosed with CFCS,the patients need multidisciplinary assessment and treatment.

关 键 词：心-面-皮肤综合征 RAS通路病 RAS-MAPK信号通路 

分 类 号：R725.9[医药卫生—儿科]