PEX1基因突变导致的Zellweger谱系障碍1例并文献复习  

A case of Zellweger spectrum disorder caused by PEX1 gene mutation and literature review

作　　者：刘苏颖 麻宏伟[1] Liu Suying;Ma Hongwei(Department of Developmental Pediatrics,Shengjing Hospital of China Medical University,Liaoning,Shenyang 110000,China)

机构地区：[1]中国医科大学附属盛京医院发育儿科,辽宁沈阳110000

出　　处：《发育医学电子杂志》2025年第1期62-65,共4页Journal of Developmental Medicine (Electronic Version)

摘　　要：本文报道1例7月25 d女性患儿,以互动反应差就诊,伴发育迟缓、喂养困难、肌张力低、听力异常、特殊面容。实验室检查显示,转氨酶和胆汁酸显著升高,高通量测序全外显子检查提示过氧化物酶1(peroxidase 1,PEX1)基因复合杂合突变,血清极长链脂肪酸升高,结合患儿临床表现诊断为Zellweger谱系障碍(Zellweger spectrum disorder,ZSD),给予熊去氧胆酸治疗、康复训练等对症处理。通过报道本例PEX1基因突变致ZSD患儿,结合文献复习对该病的临床特征、诊疗方法等进行归纳总结,以提高对该病的认识。A case of 7 month and 25 days female child was reported in this article.The patient was treated for poor interaction response,accompanied by developmental delay,feeding difficulties,hypotonia,abnormal hearing,and special facial features.Laboratory tests showed significant increases in transaminase and bile acids,high-throughput whole exon tests showed complex heterozygous mutations of peroxidase(PEX1)gene,and serum very-long-chain fatty acids were elevated.Zellweger spectrum disorder(ZSD)was diagnosed according to the clinical manifestations of the child.Ursodeoxycholic acid treatment was given,and treatment such as rehabilitation training was suggested.By reporting this case of a child with ZSD caused by PEX1 gene mutation and reviewing relevant literature,the clinical characteristics,diagnosis and treatment methods of the disease were summarized to improve the understanding of the disease.

关 键 词：发育迟缓 肌张力低 过氧化物酶1基因 Zellweger谱系障碍 

分 类 号：R725.9[医药卫生—儿科]