喂养困难新生儿家系的遗传学病因分析  

Genetic etiology analysis in families of newborns with feeding difficulties

作　　者：娄永峥 闫露露[2,3] 李海波 薛江阳 张玉鑫 解敏[2,3] 韩春晓 何艳 徐莉敏 LOU Yongzheng;YAN Lulu;LI Haibo;XUE Jiangyang;ZHANG Yuxin;XIE Min;HAN Chunxiao;HE Yan;XU Limin(Neonatology Department of Ningbo Women&Children’s Hospital,Ningbo,Zhejiang 315012,China;Birth Defects Comprehensive Prevention and Control Center of Ningbo Women&Children’s Hospital,Ningbo,Zhejiang 315012,China;Ningbo Key Laboratory of Fetal Diseases,Ningbo,Zhejiang 315012,China;Neurology Department of Ningbo Women&Children’s Hospital,Ningbo,Zhejiang 315012,China)

机构地区：[1]宁波市妇女儿童医院新生儿科,浙江宁波315012 [2]宁波市妇女儿童医院出生缺陷综合防治中心,浙江宁波315012 [3]宁波市胎儿源性疾病重点实验室,浙江宁波315012 [4]宁波市妇女儿童医院神经内科,浙江宁波315012

出　　处：《中国优生与遗传杂志》2024年第2期297-304,共8页Chinese Journal of Birth Health & Heredity

基　　金：宁波市科技计划项目(202002N3150,2022S035);宁波市医学品牌学科(PPXK2018-06);宁波市医疗卫生高端团队重大攻坚项目(2022020405);宁波市重点研发计划(2023Z178)。

摘　　要：目的 揭示喂养困难新生儿的遗传学病因,探讨全外显子组测序对该患儿人群的临床诊疗价值。方法 收集2020年12月1日至2023年4月30日就诊于宁波市妇女儿童医院且存在喂养困难合并至少一种基础疾病(如胃肠道、肺部、神经、先天性结构异常和先天性功能异常等)的患儿及其临床资料,完善全外显子组测序,并进行多维度数据分析和文献综述。结果 共纳入9例患儿,基因检测结果阳性共6例,包括2例1型强直性肌营养不良,1例神经发育障碍伴有新生儿呼吸功能不全-肌张力低下-喂养困难,1例假性甲状旁腺功能减退症,1例口面指/趾综合征1型和1例2型脊髓性肌萎缩症。根据疾病类型,基因检测阳性患儿进行了药物及康复干预等治疗,检测阴性患儿2例对症治疗且随访结局较好,1例重度窒息放弃治疗死亡。结论 出生早期出现喂养困难合并基础疾病的新生儿行全外显子组测序对临床的诊断和治疗决策有重要意义。Objective To reveal the genetic causes of newborns with feeding difficulties,and to explore the clinical value of whole-exome sequencing in the diagnosis and treatment of this population.Methods From December 1,2020 to April 30,2023,children with feeding difficulties and at least one basic disease(such as gastrointestinal,lung,nerve,congenital structural abnormalities,congenital functional abnormalities,etc.) and clinical data were collected from Ningbo Women and Children's Hospital,and the whole-exome sequencing was improved,and multi-dimensional data analysis and literature review were conducted.Results Totally 9 children were included,6 of whom were positive in the genetic testing,including 2cases of myotonic dystrophy type 1,1 case of neurodevelopmental disorder with neonatal respiratory insufficiency hypotonia feeding difficulties,1 case of pseudohypoparathyroidism,1 case of orofacial digital/digital syndrome type 1,and 1 case of spinal muscular atrophy type 2.According to the type of disease,the children with positive genetic testing were treated with drugs and rehabilitation interventions.Two children with negative genetic testing were treated with symptomatic treatment and the follow-up results were good.One patient died of severe asphyxia after giving up treatment.Conclusion The whole-exome sequencing of newborns with feeding difficulties and basic diseases is of great significance for clinical diagnosis and treatment decision-making,and has the value of routine screening.

关 键 词：喂养困难 新生儿 全外显子组测序 Sanger测序 罕见病 

分 类 号：R722.11[医药卫生—儿科]