以原发性肺动脉高压为表现的SMAD9基因突变一例  

A newborn with SMAD9 genetic mutation presented as primary pulmonary hypertension

作　　者：金宏娟 陈书扬 黄英 林晴晴 黄丹 庄德义[1] Jin Hongjuan;Chen Shuyang;Huang Ying;Lin Qingqing;Huang Dan;Zhuang Deyi(Neonatal Intensive Care Unit,Children's Hospital of Fudan University Xiamen Branch(Xiamen Children's Hospital),Xiamen Key Laboratory of Neonatal Diseases,Xiamen 361000,China;School of Clinical Medicine,Fujian Medical University,Fuzhou 350000,China)

机构地区：[1]复旦大学附属儿科医院厦门分院(厦门市儿童医院)新生儿科,厦门市新生儿疾病重点实验室,361000 [2]福建医科大学临床医学部,福州350000

出　　处：《中华围产医学杂志》2020年第11期771-773,共3页Chinese Journal of Perinatal Medicine

摘　　要：本文报道了1例原发性肺动脉高压患儿的诊治过程。该患儿系足月经阴道分娩,出生情况好,生后8 d因间断发绀入院,胸部X射线检查可见双肺散在淡片状模糊影,超声心动图示动脉导管未闭。入院后予抗感染,头罩给氧3 d后予高频呼吸机辅助通气联合一氧化氮吸入,持续静脉滴注米力农及口服西地那非,但病情进行性加重。放弃治疗15 min后患儿死亡。基因检查发现患儿SMAD9基因中chr13:37446983发生点突变。We report the diagnosis and treatment of a neonate with primary pulmonary hypertension.The full-term baby was delivered vaginally in good condition at birth and admitted eight days after birth due to intermittent cyanosis.The chest X-ray showed a scattered sheet-like shadow in both lungs,and the cardiac color doppler studies suggested patent ductus arteriosus.Following admission,the neonate was given three days of anti-infection and headbox oxygen treatment.Despite subsequent high-frequency ventilator assisted ventilation combined with nitric oxide inhalation and continuous intravenous milrinone and oral sildenafil,the baby's condition worsened,and she died fifteen minutes after withdrawing resuscitation.Genetic studies revealed a chr13:37446983 mutation in SMAD9.

关 键 词：高血压 肺性 Smad8蛋白质 突变 

分 类 号：R725.4[医药卫生—儿科]