肺泡毛细血管发育不良一例报告并文献复习

Alveolar capillary dysplasia：a case report and review of literature

目的 报道1例肺泡毛细血管发育不良（alveolar capillary dysplasia,ACD）,并复习文献20例.方法 自Medline检索国外报道病例.结果 本例为足月顺产,生后5 h开始出现呼吸窘迫,给予呼吸机辅助呼吸等无效,生后第4天死亡,尸检病理学诊断符合肺泡毛细血管发育不良.21例中,19例足月儿,2例早产儿.19例出生体重正常,男∶女=7∶14.15例出生Apgar评分正常;16例在出生24 h内出现缺氧症状,5例在生后1～19 d内起病;20例出现肺动脉高压,全部患儿出现心脏血液右向左分流.20例给予呼吸机辅助呼吸;7例行高频振荡通气;12例行体外膜肺支持;14例行一氧化氮吸入治疗,4例行肺表面活性物质治疗.6例行肺部活检.胸部X线检查显示,3例表现正常,9例出现气胸,7例出现双肺网状影、颗粒状影以及弥漫性斑片状影、透过度减低等,2例肺血管影减少.全部21例均死亡,其中8例在出生10 d内死亡,7例在出生30 d内死亡,最长存活时间为4个月.14例伴有先天性心血管系统、消化系统、泌尿系统、呼吸系统等畸形,其中1例伴发染色体畸形,2例有家族遗传倾向.结论 目前,本病尚无特效治疗、且预后不良、医疗费用巨大.当新生儿出现呼吸衰竭或者PPHN,常规治疗无效时,应该高度怀疑此病,并行常规开放式肺组织活检,以明确诊断.

Objective To report a newborn infant who died of alveolar capillary dysplasia（ACD）.The literature on about 20 cases of ACD was reviewed.Methods A retrospective review of records of infants from Medline with a diagnosis of ACD was carried out.Results The case was a newborn female infant who developed respiratory distress 5 hours after an uncomplicated delivery.She died at the fourth day after birth despite full ventilatory support.The lung autopsy provided a diagnosis of ACD.In the 21 infants,7 were male and 14 were female;19 infants were born full-term and 2 were born pre-term.The birth weight of 19 infants and Apgar score of 15 infants were normal;16 infants developed progressing tachypnea and cyanosis within 24 hours of age,5 developed cyanosis at 1 day to 19 days.Echocardiography demonstrated a right to left shunt in the hearts of all the 21 infants,and pulnonary hypertension in 20 infants.Twenty infants were treated with conventional mechanical ventilation,7 infants with high-frequency oscillatory ventilation and 12 infants with extracorporeal membrane oxygenation（ECMO）.Fourteen infants were also treated with inhaled nitric oxide therapy and 4 with exogenous surfactant.Diagnostic open lung biopsy was performed in 6 infants.The chest radiography showed normal findings in 3 infants,pneumothoraces in 9infants,reticular markings,granular,patchy or diffuse opacity in lungs of 7 infants,and decreasedpulmonary vascular markings in two infants.All the21 infants died;8 of them died within 10 days of age,7within 30 days of age,and one died at the age of 4 months who was the longest survivor.Fourteen infants were associated with congenital malformations,such as cardiovascular,gastrointestinal,and genitourinary systems,including one infant associated with chromosomal abnormalities,two infants of familial genetic predisposition.Conclusions At present,ACD is still a disease with poor prognosis,significant medical expenses and no specific treatment.When respiratory failure or persistent pulmonary hypertension（PPHN）is persistent after routine treatment in an infant,ACD should be highly suspected and conventional open-lung biopsy should be preformed to confirm the diagnosis.