PDF(Pubmed)
Abstract：
A rare and challenging case of a preterm neonate with clinical and radiological signs of respiratory distress syndrome (RDS) since the first hour of life but was refractory to its standard treatment regimes like surfactant therapy and ventilation. Postmortem lung biopsy led us to the diagnosis of congenital pulmonary alveolar proteinosis (PAP). It occurs due to the aggregation of abnormal surfactant proteins and lipids in the alveoli, which hampers gas diffusion across the alveoli. It presents as respiratory distress at birth, and its diagnosis is often missed due to its resemblance with RDS. Although the exact etiology remains elusive, mutations in genes encoding surfactant and granulocyte-macrophage colony-stimulating factor (GM-CSF) pathway components have been implicated in the pathogenesis of PAP. Treatment options are limited and only supportive. Among all these, whole-lung lavage is the most widely used management modality but with limited success in neonates.
摘要：
一例罕见且具有挑战性的早产儿，自生命的第一个小时以来就出现了呼吸窘迫综合征（RDS）的临床和放射学体征，但对表面活性剂治疗和通气等标准治疗方案难以治疗。死后肺活检使我们诊断为先天性肺泡蛋白沉积症（PAP）。它是由于肺泡中异常表面活性剂蛋白和脂质的聚集而发生的，阻碍气体扩散穿过肺泡。它在出生时表现为呼吸窘迫，由于其与RDS的相似性，其诊断经常被遗漏。尽管确切的病因仍然难以捉摸，编码表面活性剂和粒细胞-巨噬细胞集落刺激因子(GM-CSF)途径组分的基因突变与PAP的发病机制有关.治疗选择是有限的，只有支持。在所有这些中,全肺灌洗是最广泛使用的管理方式，但在新生儿中的成功率有限。
