摘要
收集2018年5月至2020年7月广东省人民医院新生儿科收治的4例CHARGE综合征患儿临床资料,分析临床及遗传学特点。结果发现,4例患儿均存在气促、喂养困难、生长发育迟缓、心脏畸形;3例有喉软化;3例有支气管狭窄;3例有侧脑室扩张;2例有感音神经性听觉丧失;2例外耳廓畸形;2例视乳头正常结构消失;1例还有腭裂;4例患儿均检出CHD7基因致病性杂合变异,父母均未见突变。后期随访,2例经康复治疗吞咽功能及运动发育好转;2例因多发畸形、病情重,出院后死亡。由此认为,对于先天性心脏畸形合并眼、鼻、耳部畸形,生长发育迟缓、喂养困难的患儿,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。
Clinical data of 4 patients with CHARGE syndrome who were treated in Guangdong Provincial People′s Hospital from May 2018 to July 2020 were collected,and their clinical and genetic characteristics were analyzed.The results showed that all 4 patients had shortness of breath,feeding difficulties,growth retardation and heart malformation;3 had laryngeal malacia;3 had bronchial stenosis;3 had lateral ventricular dilatation;2 had sensorineural hearing loss;2 had auricle deformity;2 patients' normal structure of the visual papilla disappeared;1 also had cleft palate.The pathogenic heterozygous mutation of CHD7 gene was detected in all 4 cases,and no mutation was found in their parents.The follow-up showed that 2 cases had swallowing function and motor development improved after rehabilitation treatment;2 cases died after discharge due to multiple deformities and severe illness.Therefore,it is believed that for children with congenital heart malformation combined with eye,nose and ear malformation,growth retardation and feeding difficulties,it is necessary to be alert to CHARGE syndrome and complete genetic testing in time in order to achieve early diagnosis and early intervention and improve prognosis.
作者
张超英
孙云霞
刘玉梅
余宇晖
葛振香
ZHANG Chao-ying;SUN Yun-xia;LIU Yu-mei(Department of Neonatology,Guangdong Provincial People's Hospital/(Guangdong Academy of Medical Sciences),Southern Medical University,Guangzhou 510080,China)
出处
《中国实用儿科杂志》
CSCD
北大核心
2024年第4期316-320,共5页
Chinese Journal of Practical Pediatrics
基金
国家重点研发计划项目(2018YFC1002600)
广东省登峰计划项目(DFJH201802)。
