欢迎访问《中国循证儿科杂志》官方网站，今天是
English Version
中国循证儿科杂志

中国循证儿科杂志 ›› 2025, Vol. 20 ›› Issue (2): 157-160.DOI: 10.3969/j.issn.1673-5501.2025.02.013

• 病案报告 • 上一篇    

CHARGE综合征1例病例报告

周斯斯, 阮雯聪, 陈曦, 何瑾, 李海峰   

  1. 浙江大学医学院附属儿童医院康复科，国家儿童健康与疾病临床医学研究中心，国家儿童区域医疗中心 杭州，310003
  • 收稿日期:2025-02-24 修回日期:2025-03-23 出版日期:2025-04-25 发布日期:2025-04-25
  • 通讯作者: 李海峰

CHARGE syndrome：A case report

ZHOU Sisi, RUAN Wencong, CHEN Xi, HE Jin, LI Haifeng    

  1. Department of Pediatric Rehabilitation,Children's Hospital,Zhejiang University School of Medicine，Hangzhou 310003, China
  • Received:2025-02-24 Revised:2025-03-23 Online:2025-04-25 Published:2025-04-25
  • Contact: LI Haifeng

PDF

151

摘要： 回顾性分析2022年11月浙江大学医学院附属儿童医院康复科收治的1例CHARGE综合征患儿的临床资料及遗传学特点，并检索相关文献进行复习。患儿，女，3日龄，因“足月低出生体重儿，纳差3 d”首次就诊，后期就诊过程中，突出症状为喂养困难、生长发育迟缓、心脏畸形、感音神经性听觉丧失、外耳廓畸形；并检出CHD7基因致病性杂合变异c.2381 2384del（p.S794Lfs*8），父母均未检出该变异。行动脉导管结扎术及长期康复治疗后，患儿心脏畸形改善，吞咽及运动能力好转。因此，对于存在以上类似症状的患儿，需警惕CHARGE综合征，及时完善基因检测，以达到早诊断、早干预，改善预后。

关键词: CHARGE综合征, CHD7基因, 诊断, 儿童

Abstract: The clinical data and genetic characteristics of a child with CHARGE syndrome admitted to the Rehabilitation Department of the Children's Hospital Affiliated to the School of Medicine of Zhejiang University in November 2022 were retrospectively analyzed, and the relevant literature was retrieved and reviewed.The patient, a 3-day-old female, was admitted to hospital due to "term low birth weight infant with poor appetite for 3 days". During the later treatment, the prominent symptoms included feeding difficulties, growth retardation, cardiac malformation, senineural hearing loss, and external auricle malformation.The pathogenic heterozygous variation c.2381 2384del（p.S794Lfs*8）of CHD7 gene was detected, and no mutation was found in her parents. After arterial catheter ligation and long-term rehabilitation treatment, the child's heart malformation, swallowing and movement ability improved.Therefore, it is believed that children suspected of the above symptoms should be vigilant about CHARGE syndrome and improve genetic testing in time to achieve early diagnosis, early intervention and improve prognosis.

Key words: CHARGE syndrome, CHD7 gene, Diagnosis, Child