Absence of lamellar bodies with accumulation of dense bodies characterizes a novel form of congenital surfactant defect
Absence of lamellar bodies with accumulation of dense bodies characterizes a novel form of congenital surfactant defect
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DOI：
10.1007/s100249910048
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发表时间：
2000-07-01
影响因子：
1.9
通讯作者：
Nogee, LM
中科院分区：
文献类型：
--
作者：
Tryka, AF;Wert, SE;Nogee, LM
两名女性同胞足月新生儿出生后不久发生呼吸窘迫，进展为呼吸衰竭。气管灌洗显示存在表面活性蛋白A（SP-A），但表面活性蛋白B（SP-B）很少，无异常表面活性蛋白C（SP-C）。在两个婴儿进行肺活检，突出的II型肺细胞增生是明显的。通过超微结构检查，确定不存在正常形成的板层体，在II型肺细胞内存在许多不规则的电子致密体。在肺泡腔和肺泡巨噬细胞中也可发现这些电子致密体。无肺泡管状髓鞘存在。光学显微镜检查显示表面活性蛋白SP-A、proSP-B、SP-B和proSP-C的免疫反应性异常高。在肺泡腔中观察到不完全处理的免疫阳性proSP-B，但未观察到proSP-C。扩增的cDNA序列分析未发现SP-B或SP-C基因突变。我们的结论是，这些兄弟姐妹表现出遗传性表面活性物质缺乏症的特点是肺细胞内的表面活性物质蛋白的异常积累。这种异常蓄积可能是由于原发性分泌缺陷、表面活性剂磷脂缺陷或磷脂与表面活性剂蛋白之间的异常相互作用。
Two female sibling full-term newborns developed respiratory distress shortly after birth, which progressed to respiratory failure. Tracheal lavage demonstrated presence of surfactant protein A (SP-A), but little surfactant protein B (SP-B), without aberrant surfactant protein C (SP-C). On a lung biopsy performed in both infants, prominent type II pneumocyte hyperplasia was evident. Through ultrastructural examination an absence of normally formed lamellar bodies was determined, with numerous irregular electron dense bodies within the type II pneumocytes. These electron dense bodies could also be identified in the alveolar spaces and alveolar macrophages. No alveolar tubular myelin was present. Abnormally high immunoreactivity for surfactant proteins SP-A, proSP-B, SP-B, and proSP-C was demonstrated by light microscopy. Presence of incompletely processed immunopositive proSP-B, but not proSP-C was observed in the alveolar lumina. No mutations in either the SP-B or SP-C gene were identified by sequence analysis of amplified cDNA. We conclude that these siblings exhibit an inherited surfactant deficiency characterized by abnormal accumulations of surfactant proteins within the pneumocytes. This abnormal accumulation may be due to a primary secretory defect, a defect in surfactant phospholipids, or an abnormal interaction between the phospholipids and surfactant proteins.