摘要
目的对重庆及周边地区脊髓性肌萎缩症(spinal muscular atrophy,SMA)的自然病史进行分析,为开展SMA的综合管理、基因修饰治疗提供临床依据。方法回顾性分析117例SMA患儿的临床资料及生存现状。结果117例患儿中,1型SMA 62例(53.0%)、2型45例(38.5%)、3型10例(8.5%),中位起病年龄分别为2、10、15月龄。1型SMA起病、就诊、确诊时间均早于2、3型SMA(P<0.05),1型SMA就诊时间窗(起病年龄至就诊年龄)短于2、3型SMA(P<0.05)。肺炎为首发症状、抬头无力、哭声无力、进食费力多见于1型SMA(P<0.05),2型SMA脊柱侧弯和下肢关节挛缩发生率高于1型(P<0.05)。117例(100%)SMA患儿均为SMN1基因纯合缺失,其中以7号外显子纯合缺失最常见(68.4%,80/117)。1型SMA的6年生存率仅为10%±5%,低于2、3型SMA(P<0.05)。起病年龄≤3月龄、肺炎为首发症状、抬头无力为1型SMA死亡的危险因素(P<0.05)。2型SMA运动能力可呈非线性倒退。结论各型SMA患儿临床表现、生存率均存在异质性,1型SMA生存率低,2型SMA运动能力可呈非线性倒退,临床上应早期识别及管理SMA。
Objective To study the natural history of spinal muscular atrophy(SMA)in Chongqing and surrounding areas,China,and to provide a clinical basis for comprehensive management and gene modification therapy for SMA.Methods A retrospective analysis was performed on the medical data and survival status of 117 children with SMA.Results Of the 117 children,62(53.0%)had type 1 SMA,45(38.5%)had type 2 SMA,and 10(8.5%)had type3 SMA,with a median age of onset of 2 months,10 months,and 15 months,respectively.Compared with the children with type 2 SMA or type 3 SMA,the children with type 1 SMA had significantly shorter time to onset,consultation,and confirmed diagnosis(P<0.05)and a significantly shorter diagnostic time window(age from disease onset to consultation)(P<0.05).Pneumonia as the initial symptom,weakness in head control,crying weakness,and eating difficulty were more commonly observed in children with type 1 SMA(P<0.05).Scoliosis and lower limb joint contracture were more common in children with type 2 SMA than in those with type 1 SMA(P<0.05).All 117 SMA children(100%)had homozygous deletion of the SMN1 gene,and the homozygous deletion of exon 7 was the most common type(68.4%,80/117).The 6-year survival rate of children with type 1 SMA was only 10%±5%,which was significantly lower than that of children with type 2 or 3 SMA(P<0.05).Age of onset≤3 months,pneumonia as the initial symptom and weakness in head control were the risk factors for death in children with type 1 SMA(P<0.05).The children with type 2 SMA had non-linear regression of motor ability.Conclusions There are differences in clinical manifestations and survival rates among children with different types of SMA.The children with type 1 SMA have a low survival rate,and those with type 2 SMA may have non-linear regression of motor ability.Early identification and management of SMA should be performed in clinical practice.
作者
杨贇滢
袁萍
李梅
蒋莉
洪思琦
YANG Yun-Ying;YUAN Ping;LI Mei;JIANG Li;HONG Si-Qi(Department of Neurology,Children's Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Ministry of Education Key Laboratory of Child Development and Disorders/China International Science and Technology Cooperation Base of Child Development and Critical Disorders/Chongqing Key Laboratory of Translational Medical Research in Cognitive Development and Learning and Memory Disorders,Chongqing 400014,China)
出处
《中国当代儿科杂志》
CAS
CSCD
北大核心
2021年第10期1038-1043,共6页
Chinese Journal of Contemporary Pediatrics
作者简介
杨贇滢,女,硕士,住院医师;通信作者:洪思琦,女,主任医师。Email:siqihong@hotmail.com。
