Alzina de Aguilar V, Gaboli M, Bastero Miñon P, Romero Montero A, de Alava E
Departamento de Pediatría, Clínica Universitaria de Navarra, Pamplona, Spain.
An Pediatr (Barc). 2005 Mar;62(3):210-4. doi: 10.1157/13071834.
Respiratory insufficiency in a term infant during the first weeks of life is unusual. Possible causes include interstitial or diffuse lung disease, which are a heterogeneous group of mostly idiopathic disorders, characterized by diffuse infiltrates, restrictive functional defect, and disordered gas exchange. A form of interstitial lung disease that can affect infants, children or young adults is that associated with congenital surfactant protein B or C deficiency, in which the inflammatory process leading to interstitial fibrosis is preceded by the accumulation of proteinaceous material in the alveolar space. We assessed the role of potential abnormalities in the surfactant proteins B and C in a Spanish family in which two infants showed progressive neonatal respiratory failure associated with radiological and pathological alterations compatible with interstitial lung disease. The father had a history of respiratory disease since childhood. The two affected children in this family had abnormal expression of surfactant C precursor protein, with markedly decreased levels of the mature protein. Moreover, a previously unreported mutation in the gene encoding surfactant protein C, which was found in this family, is described.
足月儿在出生后的头几周出现呼吸功能不全的情况并不常见。可能的原因包括间质性或弥漫性肺部疾病，这是一组异质性疾病，大多为特发性疾病，其特征为弥漫性浸润、限制性功能缺陷和气体交换紊乱。一种可影响婴儿、儿童或年轻人的间质性肺病形式与先天性表面活性物质蛋白B或C缺乏有关，在这种疾病中，导致间质性纤维化的炎症过程之前，肺泡腔内会有蛋白质物质积聚。我们评估了西班牙一个家族中表面活性物质蛋白B和C潜在异常的作用，该家族中有两名婴儿出现进行性新生儿呼吸衰竭，伴有与间质性肺病相符的放射学和病理学改变。父亲自童年起就有呼吸系统疾病史。这个家族中的两名患病儿童表面活性物质C前体蛋白表达异常，成熟蛋白水平明显降低。此外，还描述了在这个家族中发现的编码表面活性物质蛋白C的基因中一个以前未报道的突变。
