PIEZO1基因变异导致的新生儿乳糜胸1例并文献复习  

One case of neonatal chylothorax caused by PIEZO1 gene mutation and literature review

作　　者：郭育屏 姜舟 GUO Yuping;JIANG Zhou(Department of Neonatology,Shaoyifu Hospital Affiliated to Zhejiang University School of Medicine,Zhejiang Province,Hangzhou 310000,China)

机构地区：[1]浙江大学医学院附属邵逸夫医院新生儿科,浙江杭州310000

出　　处：《妇儿健康导刊》2025年第5期53-56,共4页JOURNAL OF WOMEN AND CHILDREN'S HEALTH GUIDE

摘　　要：新生儿乳糜胸发病率较低,致死率较高,临床诊疗缺乏可参考的大样本、多中心研究,多以内科对症治疗为主。基因突变是导致新生儿乳糜胸发病的重要原因之一,PIEZO1基因c.2948T> A(p.Leu983His)杂合突变导致新生儿乳糜胸的报道较少。本文报道1例PIEZO1基因变异导致的新生儿乳糜胸,全外显子检测结果为PIEZO1基因c.2948T>A(p.Leu983His)杂合错义突变,与淋巴管畸形6型相关,突变来自患儿父亲,临床经呼吸支持、营养支持、奥曲肽治疗,患儿预后良好。出院后随访3个月,患儿生长发育良好,胸腔积液未复发,为临床新生儿乳糜胸的诊疗提供参考。The incidence rate of neonatal chylothorax is low,and the mortality rate is high.The clinical diagnosis and treatment are lack of large samples and multi center research that can be referred,and are mainly symptomatic treatment of internal medicine.Gene mutation is one of the important cause of neonatal chylothorax.PIEZO1 gene c.2948T.A(p.Leu983His)heterozygous mutation resulting in neonatal chylothorax has been less reported.This article reports a case of neonatal chylothorax caused by PIEZO1 gene mutation.The whole exon detection results showed that the PIEZO1 gene c.2948T>A(p.Leu983His)heterozygous missense mutation,which was associated with lymphatic malformation type 6 and was obtained from the father.The child was clinically treated with respiratory support,nutritional support and Octreotide,and had a good prognosis.The child was discharged from the hospital and followed up for 3 months,with good growth and development,and no recurrence of pleural effusion,which provides a reference for the clinical diagnosis and treatment of neonatal chylothorax.

关 键 词：淋巴管畸形6型 PIEZO1基因 新生儿乳糜胸 

分 类 号：R722.1[医药卫生—儿科]