117例儿童脊髓性肌萎缩症自然病史分析

doi:10.7499/j.issn.1008-8830.2106025

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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。

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	杨贇滢
	袁萍
	李梅
	蒋莉
	洪思琦

关键词 ：脊髓性肌萎缩症, 自然病史, SMN1基因, 生存分析, 儿童

Abstract：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 type 3 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.

Key words： Spinal muscular atrophy Natural history SMN1 gene Survival analysis Child

收稿日期: 2021-06-07

通讯作者: 洪思琦，女，主任医师。Email：siqihong@hotmail.com。 E-mail: siqihong@hotmail.com

作者简介: 杨贇滢，女，硕士，住院医；

引用本文:

杨贇滢,袁萍,李梅等. 117例儿童脊髓性肌萎缩症自然病史分析[J]. 中国当代儿科杂志, 2021, 23(10): 1038-1043.

YANG Yun-Ying,YUAN Ping,LI Mei et al. Natural history of spinal muscular atrophy in children: an analysis of 117 cases[J]. CJCP, 2021, 23(10): 1038-1043.

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