伴硬皮病样改变的典型Hutchinson-Gilford早老综合征一例并文献复习  

Analysis of a case with typical Hutchinson-Gilford progeria syndrome with scleroderma-like skin changes and review of literature

作　　者：黄姗[1] 梁雁[1] 吴薇[1] 付溪[1] 廖立红[1] 罗小平[1] 

机构地区：[1]华中科技大学同济医学院附属同济医院儿科,武汉430030

出　　处：《中华儿科杂志》2014年第2期112-116,共5页Chinese Journal of Pediatrics

基　　金：十二五国家科技支撑计划项目基金（2012BAI09B04）;卫生部行业基金（201002006）

摘　　要：目的 探讨典型Hutchinson-Gilford早老综合征（HGPS）的临床特点及诊断.方法 回顾性分析华中科技大学同济医学院附属同济医院儿科诊断的1例典型HGPS患儿,并复习相关文献,分析本病的临床表现、影像学特点、基因突变特点及诊疗方法.结果 患儿男,8月龄,身高65.6 cm,体重6.2 kg,前额突出,枕部秃发,头皮静脉显露,小颌畸形伴下颌纵向沟,胸部以下皮肤呈硬皮病样改变,双膝关节挛缩呈“骑马样站姿”,踝关节活动亦受限.血常规示血小板（416～490）×109/L;双下肢MRI发现皮下脂肪组织减少.家系外周血LMNA基因分析示患儿携带经典杂合突变：c.1824C＞T,（p.G608G）,其父母均正常.13月龄随访时X线检查示双手指骨及锁骨远端有骨质溶解改变.随访15个月后,患儿早老样外貌更明显.总结相关文献发现国内结合临床特征和基因分析明确诊断的典型HGPS有2例,其中1例有硬皮病样皮肤改变.结论 患儿呈典型HGPS表型;婴儿期皮肤出现硬皮病样改变,应考虑典型HGPS的可能,且LMNA基因分析有助于典型HGPS的早期确诊,避免其他不必要的检查.应对患儿长期进行随访,观察病情持续进展.Objective To explore clinical,radiographical and genetic characteristics of classical Hutchinson-Gilford progeria syndrome （HGPS）.Method Data of a case of HGPS diagnosed at Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology was analyzed and related literature was reviewed.Result At the age of 8 months,the affected-infant presented with characteristic manifestation such as short stature,low weight,frontal bossing,alopecia,prominent scalp veins,micrognathia with a vertical midline groove in the chin,sclerodermatous skin,knee joints contracture with a horse-riding stance,and limited range of movement of ankle joints.Blood test showed blood platelet count （416-490） × 109/L.Lower extremities MRI showed reduced subcutaneous fat.LMNA gene analysis showed that the affected-infant carried typical heterozygous mutation：c.1824C 〉T （p.G608G）,while his parents were normal.At the age of 13 months,X-rays showed short distal phalanges and clavicles with acroosteolysis.After following up for 15 months,his appearance of progeria became more apparent.As far as we know,there are only 2 cases of classical HGPS confirmed by gene analysis in China.Conclusion Classical HGPS should be considered when infants appeared with sclerodermatous skin.Genetic analysis could help to diagnose classical HGPS as early as possible and avoid unnecessary investigations.In addition,affectedinfants need to be long term followed-up and provided genetic counseling.

关 键 词：衰老 过早 Hutchinson-Gilford早老综合征 基因测定 

分 类 号：R725.9[医药卫生—儿科]