de la Fuente A A, Voorhout W F, deMello D E
Regional Pathology Laboratory, Enschede, The Netherlands.
Pediatr Pathol Lab Med. 1997 Mar-Apr;17(2):221-31.
Congenital alveolar proteinosis is a recently described cause of lung dysfunction and respiratory distress in term neonates. In several cases a deficiency or insufficiency of surfactant apoprotein B (SP-B) has been caused by a frameshift mutation in the gene encoding SP-B. Five full-term children in three unrelated families from The Netherlands are reported. Immunohistochemistry demonstrated large amounts of surfactant proteins A and C (SP-A and SP-C) and precursors in alveolar cells and in intra-alveolar material. Results were positive for antibovine SP-B antibody but negative for antipig SP-B1 antibody, most probably reflecting differences in the antibody specificity. The findings suggest abnormal SP-B function. In two sibs, no pre-SP-C was demonstrated in the alveoli, although it was found in considerable amounts in alveolar cells. One such case has previously been reported. In two families, the parents were heterozygous for the 121 ins 2 mutation in the SP-B gene. Our findings suggest that congenital alveolar proteinosis may result from abnormalities in one or more of the surfactant proteins.
先天性肺泡蛋白沉积症是近期发现的足月儿肺功能障碍和呼吸窘迫的病因。在一些病例中，表面活性物质载脂蛋白B（SP-B）的缺乏或不足是由编码SP-B的基因发生移码突变所致。本文报道了来自荷兰三个无亲缘关系家庭的五名足月儿。免疫组化显示肺泡细胞和肺泡内物质中有大量的表面活性物质蛋白A和C（SP-A和SP-C）及其前体。抗牛SP-B抗体检测结果为阳性，但抗猪SP-B1抗体检测结果为阴性，这很可能反映了抗体特异性的差异。这些发现提示SP-B功能异常。在两个同胞中，肺泡内未检测到前SP-C，尽管在肺泡细胞中发现了大量前SP-C。此前曾报道过1例此类病例。在两个家庭中，父母为SP-B基因121ins2突变的杂合子。我们的研究结果提示，先天性肺泡蛋白沉积症可能是由一种或多种表面活性物质蛋白异常所致。
