The aim of the study was to review the authors’ experience with alveolar capillary dysplasia (ACD), a cause of persistent pulmonary hypertension of the neonate (PPHN) caused by decreased alveolar units, dilated anoma...The aim of the study was to review the authors’ experience with alveolar capillary dysplasia (ACD), a cause of persistent pulmonary hypertension of the neonate (PPHN) caused by decreased alveolar units, dilated anomalous pulmonary veins, thick-walled arterioles, and thickened interalveolar septa. Methods: The records of all neonates with ACD were reviewed from Children’s Hospital, Columbus, Ohio, and Sophia’s Children’s Hospital,Rotterdam, The Netherlands. The clinical characteristics and pathological findings are discussed. Results: Eight neonates were diagnosed with ACD from 1994 to 2002. Twenty-five percent (2/8) experienced respiratory distress immediately after birth, whereas 75% (6/8) had normal Apgar scores but deteriorated 1.5 hours to 30 days after birth. All infants required conventional ventilation initially; 50% (4/8) were placed on high-frequency oscillating ventilation and 87% (7/8) on extracorporeal membrane oxygenation. A premorbid diagnosis was established in 3 patients by open lung biopsy. The diagnosis of ACD was confirmed at autopsy in all patients. Conclusions: ACD is a fatal disease that should be suspected in all neonates with respiratory failure and PPHN who fail conventional therapy. Prompt diagnosis helps to avoid prolongation of costly treatment modalities in a uniformly fatal disease. An algorithm is proposed in which neonates with PPHN who fail treatment with extracorporeal membrane oxygenation are managed by open lung biopsy.展开更多
Background/purpose The authors experienced 3 cases of persistent pulmonary hyp ertension of the neonate (PPHN)-associated with duodenal atresia with paradoxic al dilatation of the distal blind end of the duodenum. The...Background/purpose The authors experienced 3 cases of persistent pulmonary hyp ertension of the neonate (PPHN)-associated with duodenal atresia with paradoxic al dilatation of the distal blind end of the duodenum. The aim of this study was to clarify the characteristics of this novel association. Methods The medical c harts of the patients were reviewed retrospectively. Results Case 1 was a 2, 862 -g male infant with a prenatal diagnosis of duodenal atresia. The dilated intes tine was identified as the distal blind end of the duodenum during duodeno-duod enostomy. PPHN developed after surgery, and the patient died despite treatment w ith inhaled nitric oxide (iNO) and extracorporeal membrane oxygenation (ECMO). L ung biopsy results showed alveolar capillary dysplasia (ACD) with misalignment o f pulmonary vessels. Case 2 was a 2, 244-g female infant with duodenal atresia. Surgery could not be performed because of refractory PPHN, which resulted in de ath. Autopsy results showed ACD with misalignment of pulmonary vessels and duode nal atresia associated with dilatation of the distal blind end. Case 3 was a 2, 462-g female infant with a prenatal diagnosis of duodenal atresia associated wi th dilatation of the distal blind end. Enlarged echogenic fetal lungs were noted antenatally. PPHN developed after surgery, and she was extubated successfully u nder combined therapy with iNO and intravenous prostacyclin. Unfortunately, she finally died of refractory PPHN. A retrospective review of the prenatal ultrason ographic findings showed enlarged echogenic fetal lungs as in the first 2 cases. Conclusions The characteristics of this novel association are enlarged echogeni c fetal lungs, duodenal atresia associated with paradoxical dilatation of the di stal blind end, and refractory PPHN resistant to iNO.展开更多
报道1例新生儿肺泡毛细血管发育不良伴肺静脉错位(alveolar capillary dysplasia with misalignment of the pulmonary veins, ACD-MPV)病例, 表现为严重低氧血症和持续肺动脉高压。ACD-MPV是一种罕见的致死性肺发育异常, 常表现为难以...报道1例新生儿肺泡毛细血管发育不良伴肺静脉错位(alveolar capillary dysplasia with misalignment of the pulmonary veins, ACD-MPV)病例, 表现为严重低氧血症和持续肺动脉高压。ACD-MPV是一种罕见的致死性肺发育异常, 常表现为难以逆转的呼吸窘迫及青紫。基因检测大多为转录因子FOXF1基因变异, 本病例存在c.478dupG:p.L161Afs*134位点新发变异。ACD-MPV预后差, 应尽早对高度怀疑的患儿进行FOXF1基因检测并诊断。展开更多
目的探讨体外膜肺氧合技术(extracorporeal membrane oxygenation,ECMO)在新生儿持续肺动脉高压(persistent pulmonary hypertension of the newborn,PPHN)救治中的临床应用价值。方法回顾性收集2015年1月至2021年12月在中山市人民医院...目的探讨体外膜肺氧合技术(extracorporeal membrane oxygenation,ECMO)在新生儿持续肺动脉高压(persistent pulmonary hypertension of the newborn,PPHN)救治中的临床应用价值。方法回顾性收集2015年1月至2021年12月在中山市人民医院新生儿重症监护室中应用ECMO支持的11例PPHN新生儿的临床资料,包括患儿的一般资料、临床诊断、实验室检查、ECMO支持时间及过程中各种并发症、住院时间、结局等,进行比较分析。结果11例患儿中有10例撤机成功,撤机成功率91%;存活8例,存活率73%。11例患儿ECMO治疗时间26~185 h,平均治疗时间(81±50)h;呼吸机治疗时间57~392 h,平均治疗时间(198±105)h;住院时间2~49 d,平均住院时间(22±15)d。11例患儿ECMO治疗24 h后氧合指数、血乳酸水平较ECMO治疗前均显著改善(P<0.05);其中10例患儿ECMO治疗24 h后肺动脉压力较ECMO治疗前均显著下降(P<0.05);1例患儿在EMCO治疗期间肺动脉压力呈进行性升高,最终死亡,结合尸检肺组织病理及全外显子测序结果,确诊为肺泡毛细血管发育不良。11例患儿ECMO治疗期间发生颅内出血5例,弥散性血管内凝血1例,胃出血1例,肺出血2例,肾功能不全1例,穿刺处出血3例。结论ECMO技术是一种有效应用于常规治疗无效的PPHN新生儿救治的心肺支持措施。应用ECMO技术的并发症发生率高,需严格掌握适应证、把握时机、提高ECMO管理水平,才能提高患儿的撤机率及存活率。展开更多
文摘The aim of the study was to review the authors’ experience with alveolar capillary dysplasia (ACD), a cause of persistent pulmonary hypertension of the neonate (PPHN) caused by decreased alveolar units, dilated anomalous pulmonary veins, thick-walled arterioles, and thickened interalveolar septa. Methods: The records of all neonates with ACD were reviewed from Children’s Hospital, Columbus, Ohio, and Sophia’s Children’s Hospital,Rotterdam, The Netherlands. The clinical characteristics and pathological findings are discussed. Results: Eight neonates were diagnosed with ACD from 1994 to 2002. Twenty-five percent (2/8) experienced respiratory distress immediately after birth, whereas 75% (6/8) had normal Apgar scores but deteriorated 1.5 hours to 30 days after birth. All infants required conventional ventilation initially; 50% (4/8) were placed on high-frequency oscillating ventilation and 87% (7/8) on extracorporeal membrane oxygenation. A premorbid diagnosis was established in 3 patients by open lung biopsy. The diagnosis of ACD was confirmed at autopsy in all patients. Conclusions: ACD is a fatal disease that should be suspected in all neonates with respiratory failure and PPHN who fail conventional therapy. Prompt diagnosis helps to avoid prolongation of costly treatment modalities in a uniformly fatal disease. An algorithm is proposed in which neonates with PPHN who fail treatment with extracorporeal membrane oxygenation are managed by open lung biopsy.
文摘Background/purpose The authors experienced 3 cases of persistent pulmonary hyp ertension of the neonate (PPHN)-associated with duodenal atresia with paradoxic al dilatation of the distal blind end of the duodenum. The aim of this study was to clarify the characteristics of this novel association. Methods The medical c harts of the patients were reviewed retrospectively. Results Case 1 was a 2, 862 -g male infant with a prenatal diagnosis of duodenal atresia. The dilated intes tine was identified as the distal blind end of the duodenum during duodeno-duod enostomy. PPHN developed after surgery, and the patient died despite treatment w ith inhaled nitric oxide (iNO) and extracorporeal membrane oxygenation (ECMO). L ung biopsy results showed alveolar capillary dysplasia (ACD) with misalignment o f pulmonary vessels. Case 2 was a 2, 244-g female infant with duodenal atresia. Surgery could not be performed because of refractory PPHN, which resulted in de ath. Autopsy results showed ACD with misalignment of pulmonary vessels and duode nal atresia associated with dilatation of the distal blind end. Case 3 was a 2, 462-g female infant with a prenatal diagnosis of duodenal atresia associated wi th dilatation of the distal blind end. Enlarged echogenic fetal lungs were noted antenatally. PPHN developed after surgery, and she was extubated successfully u nder combined therapy with iNO and intravenous prostacyclin. Unfortunately, she finally died of refractory PPHN. A retrospective review of the prenatal ultrason ographic findings showed enlarged echogenic fetal lungs as in the first 2 cases. Conclusions The characteristics of this novel association are enlarged echogeni c fetal lungs, duodenal atresia associated with paradoxical dilatation of the di stal blind end, and refractory PPHN resistant to iNO.
文摘报道1例新生儿肺泡毛细血管发育不良伴肺静脉错位(alveolar capillary dysplasia with misalignment of the pulmonary veins, ACD-MPV)病例, 表现为严重低氧血症和持续肺动脉高压。ACD-MPV是一种罕见的致死性肺发育异常, 常表现为难以逆转的呼吸窘迫及青紫。基因检测大多为转录因子FOXF1基因变异, 本病例存在c.478dupG:p.L161Afs*134位点新发变异。ACD-MPV预后差, 应尽早对高度怀疑的患儿进行FOXF1基因检测并诊断。
