兄弟两人因糖原累积病Ⅻ在新生儿期发病的病例分析  

Onset of Glycogen Storage Disease TypeⅫin Two Brothers in the Neonatal Period

作　　者：孙艳波[1] 李存宇 陈敏 SUN Yanbo;LI Cunyu;CHEN Min(Department of Clinical Pharmacy Administration,Tengzhou Maternal and Child Health Hospital,Tengzhou,Shandong 277599,China;Department of Neonatology,Tengzhou Maternal and Child Health Hospital,Tengzhou,Shandong 277599,China)

机构地区：[1]滕州市妇幼保健院临床药学管理科,山东滕州277599 [2]滕州市妇幼保健院新生儿科,山东滕州277599

出　　处：《中国医学科学院学报》2024年第4期636-640,共5页Acta Academiae Medicinae Sinicae

摘　　要：糖原累积病(GSD)是一组常染色体隐性遗传的糖代谢障碍性疾病,在糖原的合成或分解途径中发生先天性酶缺乏而引起代谢障碍,导致糖原在脏器组织上累积。根据酶缺乏的种类,GSD分为十几个类型,其中GSDⅫ是一种超罕见的GSD分型。本文报道年龄相差5岁的兄弟两人以新生儿重度窒息、肌无力、心肌损害、贫血、智力低下为主要临床表现,在新生儿期发病的GSDⅫ纯合型病例。基因检测结果显示两患儿ALDOA基因存在核苷酸与氨基酸改变:c.619G>A,p.E207K,为纯合型,患儿父母的基因为杂合型。本文通过对GSDⅫ型的临床特点、诊断及治疗进行总结,为出生后即出现重度窒息、肌无力、贫血及多脏器损害新生儿的病因探寻及治疗提供参考。Glycogen storage diseases(GSDs)are a group of autosomal recessive disorders of glucose metabolism.GSDs are caused by congenital deficiency of enzymes in glycogen synthesis or decomposition,which results in glycogen accumulation in organs.According to the types of enzyme deficiency,GSDs can be classified into more than ten types,among which GSDⅫis a super-rare type of GSD.Two brothers with a 5-year age difference presented severe neonatal asphyxia,myasthenia,myocardial damage,anemia,and mental retardation,being GSDⅫhomozygous cases with neonatal onset.The results of gene detection showed that nucleotide and amino acid alterations(c.619G>A,p.E207K)of the ALDOA gene existed in the two brothers,being homozygous,and the genotypes in the parents were heterozygous.This article summarized the clinical features,diagnosis,and treatment of GSDⅫ,providing reference for exploring the etiology and treatment of severe asphyxia,myasthenia,anemia,and multiple organ damage in neonates after birth.

关 键 词：糖原累积病 醛缩酶A缺乏症 新生儿 肌无力 贫血 

分 类 号：R4[医药卫生—临床医学]