儿童早老症研究进展  

Research progress of Hutchinson-Gilford progeria syndrome

作　　者：余佳 桑艳梅[1] Yu Jia;Sang Yanmei(Department of Endocrinology,Genetics and Metabolism Center,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,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中心,北京100045

出　　处：《中华实用儿科临床杂志》2021年第2期148-150,共3页Chinese Journal of Applied Clinical Pediatrics

基　　金：首都临床特色应用研究项目(141107002514142)。

摘　　要：儿童早老症(HGPS)是一种极为罕见的疾病,以加速衰老为重要特征。该病可累及皮肤、脂肪、心血管、骨骼等多器官系统,发病率为1∶8000000~1∶4000000。多数患儿仅能活到6~20岁,平均寿命14.6岁。本病临床表现极具特征性,表现为严重生长迟缓、特殊皮肤表现、典型颅面表现等。HGPS预后不良,目前尚无特效疗法。确诊后应对患儿进行长期细致地随访,观察并监测病情的进展,尽可能延长患儿的寿命。现对HGPS的疾病类型、临床表现、发病机制和临床检查进行综述。Hutchinson-Gilford progeria syndrome(HGPS)is a rare disease mainly characterized by accele-rated aging,with an incidence rate of 1 in 8 million to 1 in 4 million.It can affect the skin,fat,cardiovascular,bone and other organ systems.Most HGPS children can only live to 6-20 years old,with an average life expectancy of only 14.6 years.HGPS has distinctive clinical features,such as severe growth retardation,special skin manifestations,and craniofacial manifestations.The prognosis of this disease is poor,and no treatment has been proven effective so far.Upon the diagnosis,the progress of the disease should be observed and monitored via long-term and careful follow up,so as to extend the life span of the children as much as possible.In this article,the disease type,clinical manifestations,pathogenesis and clinical examination of HGPS were reviewed.

关 键 词：儿童早老症 LMNA基因 早老蛋白 法尼基转移酶抑制剂 

分 类 号：R725.9[医药卫生—儿科]