2例糖原贮积病Ⅻ型患儿的基因突变分析
Mutation analysis of 2 children with glycogen storage disease Ⅻ
王力 1倪金龙 1李存宇 1姜宝安1
作者信息
- 1. 滕州市妇幼保健院新生儿科,山东滕州 277500
- 折叠
摘要
目的 探讨糖原贮积病Ⅻ型(GSD Ⅻ)患者的临床表现和基因突变特征.方法 对滕州市妇幼保健院收治的2例GSD Ⅻ型病患的临床资料进行回顾性研究,通过靶向测序技术进行基因检测,并结合文献复习,归纳GSD Ⅻ型病患的临床症状和基因特性.结果 2例病患为兄弟关系,均有新生儿窒息史,患者肌肉张力降低,肌酶水平反复升高,新生儿期即出现溶血性贫血,且贫血治疗效果不佳.病例1随访到5岁,表现为肌肉耐力差,语言发育滞后,并且发热时贫血加重伴肌酶升高显著.病例2随访到8个月,未发现运动发育滞后现象.患者的基因检测结果为ALDOA基因突变,c.619G＞A(p.Glu206Lys),双亲均为野生杂合子.结论 GSD Ⅻ型病患表现出一系列相对一致的症状,如肌病和横纹肌溶解症,通常在新生儿或幼儿期就已显现,可能伴随溶血或发育障碍.
Abstract
Objective To investigate the clinical manifestations and gene mutation characteristics of patients with Glycogen storage disease Ⅻ(GSD Ⅻ).Methods A retrospective study was conducted on the clinical data of two patients with GSD Ⅻ admitted to the Tengzhou Maternal and Child Health Hospital,and the clinical symptoms and genetic charac-teristics of patients with GSD Ⅻ were summarised through genetic testing by targeted sequencing technology and literature review.Results Two patients were brothers,both with a history of neonatal asphyxia,with reduced muscle tone,recurrent elevated muscle enzyme levels,haemolytic anaemia in the neonatal period,and poorly treated anaemia.Case 1 was followed up to 5 years of age and presented with poor muscular endurance,delayed speech development,and worsening of the anaemia with fever with significant elevation of muscle enzymes.Case 2 was followed up to 8 months of age and no motor develop-mental delay was observed.The patient's genetic testing analyses resulted in a mutation in the ALDOA gene,c.619G＞A(p.Glu206Lys),and both parents were wild heterozygous.Conclusion Patients with GSD Ⅻ exhibit a relatively consistent set of symptoms,including myopathy and rhabdomyolysis,which usually manifests in the neonatal or early childhood period and may be accompanied by haemolysis or developmental disorders.
关键词
糖原贮积病Ⅻ型/神经肌肉疾病/醛缩酶A/基因突变/新生儿Key words
glycogen storage disease Ⅻ/neuromuscular disease/ALDOA/gene mutation/neonate引用本文复制引用
出版年
2024
NETL
NSTL
万方数据