婴儿型糖原贮积病Ⅱ型5例临床报告并文献复习
Clinical report on 5 cases of infantile glycogen storage disease Ⅱ and literature review
戴小娟 1郑丽玲 1张家祥1
作者信息
- 1. 福建医科大学附属漳州市医院儿科重症监护室,福建漳州 363000
- 折叠
摘要
2016年11月至2022年3月福建医科大学附属漳州市医院共收治5例婴儿型糖原贮积病Ⅱ型患儿.5例中男3例,女2例,发病年龄均小于1岁,首发症状主要为呼吸困难、心肌肥厚、肝脏增大及骨骼肌无力.4例血酸性a-葡萄糖苷酶浓度明显降低,最低为0.28 mmol/(L·h).5例均进行了基因检测,其中3例为纯合错义突变,1例为杂合错义突变,1例为复合杂合错义突变,同时存在有致右室心律失常心肌病基因CTNNA3突变C.2122A＞G父源.5例均自动出院后死亡.中位生存时间为11个月(6～11个月).确诊病例中基因突变类型以c.1935C＞A最常见,c.2853G＞A可能是新的致病突变位点.
Abstract
A total of 5 children with infantile glycogen storage disease type Ⅱ were treated in Zhangzhou Hospital of Fujian Province from November 2016 to March 2022.Among the 5 cases,3 were male and 2 were female,and the age of onset was less than 1 year.The first symptoms were dyspnea,cardiac hypertrophy,liver enlargement and skeletal muscle weakness.The serum acidus-glucosidase concentration in 4 cases was significantly reduced,with the minimum being 0.28 mol/(L·h).Genetic tests were performed on 5 cases,of which 3 were homozygous missense mutations,1 was heterozygous missense mutations,and 1 was complex heterozygous missense mutations.At the same time,the right ventricular arrhythmia-inducing cardiomyopathy gene CTNNA3 mutation C.2122A＞G paternal source was present.All 5 cases died after being discharged automatically.The median survival time was 11 months(6-11 months).Among the confirmed cases,c.1935C＞A was the most common type of gene mutation,and c.2853G＞A may be a new pathogenic mutation site.
关键词
糖原贮积病Ⅱ型/婴儿型/基因突变/酶活性/酶替代治疗Key words
glycogen storage disease Ⅱ/infantile/gene mutation/enzyme activity/enzyme replacement therapy引用本文复制引用
出版年
2024
国家科技期刊平台
NSTL
万方数据