原发性纤毛运动障碍致新生儿呼吸窘迫1例并文献复习  

Primary ciliary dyskinesia causing neonatal respiratory distress:A case report and literature review

作　　者：骆学勤[1] 臧娜[1] 罗健[1] 罗征秀[1] Luo Xue-Qin;Zang Na;Luo Jian;Luo Zheng-Xiu(Department of Respiratory Disease,Children’s Hospital Affiliated to Chongqing Medical University/Key Laboratory of Child Development Disease Research,Ministry of Education/National Children’s Health and Disease Clinical Medical Research Center/National and International Science and Technology Cooperation Base for Major Diseases of Child Development/Chongqing Key Laboratory of Pediatrics,Chongqing 400014,China)

机构地区：[1]重庆医科大学附属儿童医院呼吸科/儿童发育疾病研究教育部重点实验室/国家儿童健康与疾病临床医学研究中心/儿童发育重大疾病国家国际科技合作基地/儿科学重庆市重点实验室,重庆400014

出　　处：《解放军医学杂志》2023年第1期84-90,共7页Medical Journal of Chinese People's Liberation Army

摘　　要：目的报道1例原发性纤毛运动障碍(PCD)患儿的新生儿期临床表现、诊治过程并进行文献复习,以提高对PCD的认识。方法回顾性分析重庆医科大学附属儿童医院收治的1例PCD患儿的临床资料,并检索中国知网、万方数据库、PubMed、Cochrane Library、Online Mendelian Inheritance in Man(OMIM),总结PCD的新生儿期表现。结果本例患儿女,1个月13 d,因“活动后发绀1个月余,咳嗽喘息3周,加重3 d”入院。足月儿,生后1 d出现活动后发绀,后渐出现咳嗽及喘息,因肺炎而加重,住院期间需无创通气,且存在持续CO_(2)潴留,肺炎临床治愈后仍有持续氧依赖。外显子测序提示DNAH1复合杂合突变,结合临床诊断为PCD。检索到PCD导致新生儿呼吸窘迫的病例报道9篇,共12例,均为足月儿,存在不同程度呼吸窘迫,主要表现为气促、胸壁凹陷、呼吸费力、发绀、低氧血症、氧依赖等,其中8例(66.7%)有内脏转位、6例(50.0%)有肺不张、6例(50.0%)需无创或有创机械通气。检索到DNAH1致PCD的文献报道3篇,共9例,其中儿童期确诊7例、成人期确诊2例,主要临床表现包括Kartagener综合征5例(55.5%)、支气管扩张3例(33.3%)、肺不张2例(22.2%)、感染后闭塞性细支气管炎3例(33.3%)、新生儿呼吸窘迫1例(11.1%)、女性不孕1例(11.1%)。结论PCD的新生儿期表现主要为不明原因的呼吸窘迫,且内脏转位和肺不张发病率较高,呼吸支持需求率较高。提高对PCD生命早期表现的认识有助于早期诊断和干预。Objective To summarize the clinical features,diagnosing and treating passes of a case of primary ciliary dyskinesia(PCD)in newborns,and by literature review to increase awareness of PCD.Methods The clinical data of an infant patient,admitted in Children?s Hospital Affiliated to Chongqing Medical University and diagnosed as PCD,was collected and retrospectively analyzed.CNKI,Wanfang,PubMed,Cochrane Library and Online Mendelian Inheritance in Man(OMIM)were searched,eligible literature was analyzed.Results A term female infant aged 1 month and 13 days was admitted to the hospital with1-month history of cyanosis and 3-week of cough and wheeze,which aggravated 3 days prior to admission.She developed cyanosis on postnatal day 1,then cough and wheeze gradually.Her symptoms deteriorated due to pneumonia,non-invasive ventilation was performed,and continued CO_(2) retention existed.Hypercapnia and oxygen dependence were found throughout the hospital stay even after clinical improvement.Whole exon sequencing test revealed DNAH1 compound heterozygous mutation in this patient,which leaded to the diagnosis of PCD.A total of 9 papers of neonatal respiratory distress caused by PCD were retrieved.All 12 patients in those papers were term infants,presented with varying degree of respiratory distress,which mainly manifested as tachypnea,retractions,elevated work of breath,cyanosis,hypoxemia,oxygen dependence.Of the 12 patients,8(66.7%)had situs inversus viscerum,6(50.0%)had atelectasis,6(50.0%)needed non-invasive or invasive ventilation.A total of 3 papers of PCD caused by DNAH1 mutation with 9 patients were retrieved.Of these patients,7 were diagnosed in childhood and 2 in adulthood.The main clinical manifestations were Kartagener syndrome(55.5%),bronchiectasis(33.3%),atelectasis(22.2%),post-infectious bronchiolitis obliterans(33.3%),neonatal respiratory distress(11.1%),and female infertility(11.1%).Conclusions The clinical features of PCD in neonates are mainly unexplained respiratory distress,higher incidence of situs inversus v

关 键 词：原发性纤毛运动障碍 新生儿 呼吸窘迫 

分 类 号：R725.6[医药卫生—儿科]