摘要
Abstract
A retrospective analysis was conducted on the case data of a child with congenital disorder of glycosylation caused by PMM2 gene mutation admitted to Beijing Jingdu Children's Hospital on May 11,2020 due to liver damage,in order to understand the clinical phenotype and characteristics of congenital disorder of glycosylation caused by PMM2 gene mutation.Through literature review,the clinical and genetic characteristics of congenital disorders of glycosylation mainly involving the liver were summarized.The results showed that the child was an 8-month-old female infant with onset of liver damage and myocardial damage,accompanied by coagulation dysfunction,hypoglycemia,hypoalbuminemia,thyroid dysfunction,abdominal fluid accumulation,and developmental delay.Physical examination showed signs of inverted nipples and esotropia.Head MRI suggested possible cerebellar dysplasia and Dandy Walker malformation.Gene analysis showed PMM2 compound heterozygous mutations c.448-2A＞G(splicing),c.712C＞G(p.R238G).After symptomatic treatment of liver protection,plasma and human albumin infusion,the child's abnormal laboratory test indicators improved significantly.Long-term follow-up showed significant mental and motor developmental delay.Based on the literature search,it is found that there are two main types of congenital disorders of glycosylation with liver involvement.One type is mainly liver involvement,including MPI-CDG,TMEM199-CDG,CCDC115-CDG,ATP6AP1-CDG,SLC37A4-CDG,and VMA21-CDG.The other type is mainly other system involvement combined with liver damage,including PMM2-CDG,ALG-CDG,PGM1-CDG,and COG-CDG.Liver damage is mainly manifested as liver enlargement,elevated transaminase levels,abnormal coagulation function,and hepatic fibrosis,etc.,and a few can cause liver failure.Therefore,it can be concluded that congenital disorders of glycosylation has diverse clinical manifestations and can involve multiple systems,with liver damage being a common clinical manifestation.关键词
儿童/先天性糖基化障碍/肝脏/基因Key words
child/congenital disorders of glycosyl-ation/liver/gene分类
医药卫生
