Rawat Aditi, Karotkar Sagar, Lakra Mahaveer S, Hingway Snehlata, Meshram Revatdhamma, Taksande Amar
Department of Neonatalogy, Datta Meghe Institute of Higher Education and Research (Deemed to be University), Wardha, IND.
Department of Pediatrics, Datta Meghe Institute of Higher Education and Research (Deemed to be University), Wardha, IND.
Cureus. 2024 Jul 4;16(7):e63866. doi: 10.7759/cureus.63866. eCollection 2024 Jul.
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.
一名罕见且具有挑战性的早产新生儿病例，自出生后第一小时起就出现呼吸窘迫综合征（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无效。尸检肺活检使我们诊断为先天性肺泡蛋白沉积症（PAP）。它是由于异常的表面活性剂蛋白和脂质在肺泡中聚集，阻碍了气体在肺泡间的扩散而发生的。它在出生时表现为呼吸窘迫，由于其与RDS相似，其诊断常常被漏诊。尽管确切病因尚不清楚，但编码表面活性剂和粒细胞-巨噬细胞集落刺激因子（GM-CSF）途径成分的基因突变已被认为与PAP的发病机制有关。治疗选择有限，仅为支持性治疗。在所有这些治疗方法中，全肺灌洗是应用最广泛的治疗方式，但在新生儿中的成功率有限。
