摘要
本文报告了1例因ATP结合盒超家族C2(ATP-binding cassette subfamily C member 2,ABCC2)基因变异导致的Dubin-Johnson综合征新生儿。患儿出生胎龄36周,无窒息史,生后出现腹胀伴皮肤持续黄染,以及陶土样便。全外显子组测序提示患儿10号染色体101606808-101606809发生插入变异(c.4237_c.4238insCT),以及10号染色体101553697发生错义变异c.517G>A。2处变异分别来源于父亲和母亲。给予保肝治疗和苯巴比妥口服后,患儿临床症状消失。随访至3岁,患儿生长发育与同龄儿童相当。
This study reported a case of neonatal Dubin-Johnson syndrome caused by variants in the ATP-binding cassette subfamily C member 2(ABCC2)gene.The infant,born at 36 weeks of gestation with no history of asphyxia,presented with abdominal distension accompanied by persistent skin jaundice and clay-colored stools.Whole-exome sequencing revealed two ABCC2 gene variants:an insertion(c.4237_c.4238insCT)at chromosome 10 position 101606808–101606809 inherited from the father,and a missense variant(c.517G>A)at chromosome 10 position 101553697 inherited from the mother.Following hepatoprotective therapy and oral administration of phenobarbital,the infant's clinical symptoms resolved.At follow-up until 3 years of age,the child exhibited normal growth and development comparable to peers.
作者
张燕敏
高威
左伟
余晨
Zhang Yanmin;Gao Wei;Zuo Wei;Yu Chen(Department of Neonatal Surgery,Anhui Provincial Children's Hospital,Hefei 230000,China)
出处
《中华围产医学杂志》
北大核心
2025年第6期514-516,共3页
Chinese Journal of Perinatal Medicine
基金
安徽省卫生健康委科研项目(AHWJ2021b140)
安徽省临床医学研究转化专项(202427b10020043)。
