先天性微绒毛包涵体病1例并文献复习
Congenital microvillus inclusion disease:case report and literature review
王瑞露 1温玲英 1陈建东 1胡薇潇 1刘晓虹 2郑文娟1
作者信息
- 1. 福建医科大学附属龙岩第一医院新生儿科,龙岩 364000
- 2. 武平县医院新生儿科,武平 364300
- 折叠
摘要
目的 探讨微绒毛包涵体病(microvillus inclusion disease,MVID)的临床表型和基因型特点,提高对该病的认识.方法 对福建医科大学附属龙岩第一医院新生儿科收治的1例先天性微绒毛包涵体病患儿的临床资料进行回顾性分析.以"微绒毛包涵体病""先天性腹泻""microvillus inclusion disease""congenital diarrhea""MVID""MYO5B""STX3""STXBP2"为检索词分别检索中国知网、万方数据库、维普、中华医学期刊全文数据库、PubMed、Embase、Scopus数据库自建库至2023年8月收录的文献,分析和总结国内外已报道的MVID的临床特征和遗传学特点.结果 本例患儿男,胎龄36+6周,生后20 min因气促、发绀入院.生后8 d出现喂养困难、顽固性腹泻、脱水、病理性体重下降,实验室检查提示难以纠正的代谢性酸中毒、电解质紊乱、胆汁淤积.生后24 d家属放弃治疗出院,生后29 d死亡.全外显子组基因测序结果显示患儿MYO5B基因纯合变异c.1354(exon11)C＞T(p.Q452X),分别遗传自患儿父亲和母亲,为未报道过的变异.通过检索共获得有患儿详细临床资料的国内外文献33篇,共49例,加上本例共50例MVID患儿,主要表现为顽固性腹泻、反复代谢性酸中毒、电解质紊乱、脱水,部分患儿有胆汁淤积等胃肠道外症状;16例存活,30例死亡,4例未描述结局.50例基因变异中MYO5B基因变异34例(68％),STX3基因变异6例(12％),STXBP2基因变异10例(20％).结论 MVID病死率高,当患儿出现顽固性腹泻、代谢性酸中毒、电解质紊乱时,应考虑MVID,进行基因检测可为MVID的早期诊断、治疗及遗传咨询提供依据.
Abstract
Objective To study the characteristics of phenotypes and genotypes of microvillus inclusion disease(MVID).Methods A neonate with congenital MVID admitted to our hospital was retrospectively analyzed.Using keywords"microvillus inclusion disease""congenital diarrhea""MVID""MYO5B""STX3""STXBP2",multiple medical databases were searched from inception until August,2023.The clinical and genetic characteristics of reported cases were analyzed.Results A late premature male infant with shortness of breath and cyanosis 20 min after birth was admitted to our hospital.On d 8 of admission,the infant showed feeding difficulties,intractable diarrhea,uncorrectable dehydration and pathological weight loss.Laboratory test results indicated intractable metabolic acidosis,electrolyte disturbances and cholestasis.After 24 d of hospitalization,the family gave up treatment and the infant died 5 d later(d29).Whole exome sequencing confirmed the diagnosis of MVID with homozygous mutations of c.1354(exon11)C＞T(p.Q452X)in MYO5B gene,which were inherited from the father and the mother,respectively.It was a novel mutation.A total of 33 literature involving 50 patients of MVID(our case included)were collected.The main clinical manifestations included intractable diarrhea,metabolic acidosis,electrolyte disturbances and dehydration.Some patients also developed extra-intestinal symptoms such as cholestasis.34 cases(68％)had MYO5B mutations,6(12％)had STX3 mutations and 10(20％)had STXBP2 mutations.Conclusions MVID has a high mortality rate.The possibility of MVID should be considered when an infant presents with intractable diarrhea,metabolic acidosis and electrolyte disturbances.Whole exome sequencing can provide evidence for early diagnosis,treatment and further genetic counseling of MVID.
关键词
微绒毛包涵体病/代谢性酸中毒/MYO5B基因/新生儿Key words
Microvillus inclusion disease/Metabolic acidosis/MYO5B/Neonate引用本文复制引用
出版年
2024
NETL
NSTL
万方数据