Neonatology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
J Perinatol. 2013 May;33(5):401-3. doi: 10.1038/jp.2012.63.
We report the case of a newborn with alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), a rare condition of unknown etiology presenting in the neonatal period with significant persistent pulmonary hypertension. The diagnosis was made by lung biopsy and confirmed at autopsy. Specific genetic analysis demonstrated defects in the FOXF1 gene. The diagnosis of ACD/MPV requires a high level of suspicion and is made by lung biopsy or necropsy examination by a pediatric pathologist with experience in this condition. The availability of genetic testing has led to increasing diagnosis of patients with this lethal disorder and can influence their management, specifically by indicating the need for lung biopsy in a critically ill newborn.
我们报告了一例新生儿肺泡毛细血管发育不良伴肺静脉异位（ACD/MPV）的病例，这是一种罕见的病因不明的疾病，在新生儿期表现为严重的持续性肺动脉高压。该诊断通过肺活检确定，并在尸检中得到证实。特定的基因分析显示 FOXF1 基因缺陷。ACD/MPV 的诊断需要高度怀疑，并通过有经验的儿科病理学家进行肺活检或尸检来确诊。基因检测的出现导致了对这种致命疾病患者的诊断增加，并可能影响其管理，特别是通过指示对危重新生儿进行肺活检。
