摘要
目的探讨以睡眠相关呼吸功能不全为突出表现的硒蛋白N1相关肌病(SEPN1-RM)的临床特征。方法分析以睡眠相关呼吸功能不全为突出表现的1例SEPN1-RM患儿的临床资料,对患儿及其父母外周血基因组DNA进行全外显子高通量测序,并进行相关文献回顾。结果患儿起病隐匿,进展缓慢,活动后乏力;自8岁跳跃困难,肌病面容,脊柱侧弯,睡眠相关呼吸功能不全,限制性通气功能障碍;肌肉MR显示肌群广泛性肌肉萎缩,肌电图示肌源性损害。基因检测发现SEPN1基因复合杂合变异,c.1396(exon11)C>T(父源),c.156(exon1)_c.183+7(IVS1)delCGCCGAGGCCCAGGCGGCCGCGCGGCAGGTC CGGG(母源)。结论对于睡眠相关呼吸功能不全、肌力下降、脊柱畸形、限制性通气功能障碍患儿,注意考虑SEPN1-RM。基因检查可为确诊SEPN1-RM提供依据。
Objective To investigate the clinical features of selenoprotein N1 related myopathy(SEPN1-RM)with sleep-related respiratory insufficiency as the main manifestation.Methods The clinical materials of a SEPN1-RM child with sleep-related respiratory insufficiency as the main manifestation were analyzed,genomic DNAs in the peripheral blood of the child and her parents were conducted with full exon high throughput sequencing,and a related literature review was carried out as well.Results For this child,the onset of the disease was insidious and the progress was slow,and the sense of weak was obvious after doing activities;since the age of 8,this child had difficulty in jumping,accompanied by myopathic facial features,scoliosis,sleep-related respiratory insufficiency and restrictive ventilation dysfunction;muscular MRshowed extensive muscular atrophy of muscle groups,and electromyography showed myogenic damage.Gene detection found that SEPN1 gene had compound heterozygous variation,which were c.1396(exon11)C>T(paternal source)and c.156(exon1)_c.183+7(IVS1)delCGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGG(maternal source).Conclusion SEPN1-RM should be considered for children with sleep-related respiratory insufficiency,muscle strength decline,spinal deformity and restrictive ventilation dysfunction.Genetic examination can provide basis for the diagnosis of SEPN1-RM.
作者
郭恩玉
李自普
王建龙
王文杰
姜山
朱洪峰
GUO Enyu;LI Zipu;WANG Jianlong;WANG Wenjie;JIANG Shan;ZHU Hongfeng(Department of Pediatrics,Jining City First People′s Hospital of Shandong Province,Jining,Shandong,272011;Heart Center,Women and Children′s Hospital Affiliated to Qingdao University,Qingdao,Shandong,266034;Department of Radiology,Jining City First People′s Hospital of Shandong Province,Jining,Shandong,272011)
出处
《实用临床医药杂志》
CAS
2023年第7期62-66,共5页
Journal of Clinical Medicine in Practice
关键词
儿童
睡眠
先天性肌营养不良
无创通气
呼吸功能不全
硒蛋白N1相关肌病
children
sleep
congenital muscular dystrophy
non-invasive ventilation
respiratory insufficiency
selenoprotein N1 related myopathy
