中国当代儿科杂志2026，Vol.28Issue(4)：498-501,4.DOI:10.7499/j.issn.1008-8830.2508148
DMPK基因变异致先天性强直性肌营养不良1型2例
Two cases of congenital myotonic dystrophy type 1 caused by DMPK gene variants
王小红 1王陈红 1许燕萍 1马晓路 1施丽萍 1陈正 1毛姗姗1
作者信息
- 1. 浙江大学医学院附属儿童医院新生儿重症监护室/儿童少年健康与疾病国家临床医学研究中心/浙江省新生儿疾病重点实验室,浙江 杭州 310052
- 折叠
摘要
Abstract
Patient 1 was a male neonate who,at 3 hours of life,presented with respiratory distress,hypotonia,and ventilator dependence.Genetic testing revealed a DMPK gene CTG repeat expansion(13/>83).Patient 2 was a male neonate who presented at 2 days of life after resuscitation for perinatal asphyxia,with hypotonia and ventilator dependence,complicated by hypoxic-ischemic encephalopathy and diaphragmatic eventration,which appears to represent the first such combination reported in China.Genetic testing showed a DMPK gene CTG repeat expansion(12/>83).Both cases were diagnosed with congenital myotonic dystrophy type 1.Congenital myotonic dystrophy type 1 is a rare and severe genetic disorder with low survival.When characteristic clinical manifestations appear,genetic testing and family counseling should be performed as early as possible to guide future pregnancies and reduce birth defects.关键词
先天性强直性肌营养不良1型/DMPK基因/膈膨升/肌张力低下/婴儿Key words
Congenital myotonic dystrophy type 1/DMPK gene/Diaphragmatic eventration/Hypotonia/Infant引用本文复制引用
王小红,王陈红,许燕萍,马晓路,施丽萍,陈正,毛姗姗..DMPK基因变异致先天性强直性肌营养不良1型2例[J].中国当代儿科杂志,2026,28(4):498-501,4.
