Hamvas A, Nogee L M, deMello D E, Cole F S
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, Mo., USA.
Biol Neonate. 1995;67 Suppl 1:18-31. doi: 10.1159/000244204.
Surfactant protein B (SP-B) deficiency is an inherited disease of full-term newborn infants which leads to lethal respiratory failure within the first year of life. Genetic analysis of affected infants has permitted identification of a mutation in the SP-B gene found in several unrelated kindreds which disrupts pulmonary surfactant composition and function. Lung transplantation has resulted in reconstitution of pulmonary surfactant function and long-term survival. SP-B deficiency represents the first opportunity to link physiologic characteristics of respiratory failure in infancy with specific molecular and cellular defects. This linkage will facilitate development of novel strategies for the treatment of neonatal respiratory diseases.
表面活性蛋白B（SP - B）缺乏症是足月新生儿的一种遗传性疾病，可导致在生命的第一年内出现致命的呼吸衰竭。对受影响婴儿的基因分析已确定在几个无亲缘关系的家族中发现的SP - B基因突变，该突变会破坏肺表面活性剂的组成和功能。肺移植已使肺表面活性剂功能得以重建并实现长期存活。SP - B缺乏症代表了将婴儿期呼吸衰竭的生理特征与特定分子和细胞缺陷联系起来的首个契机。这种联系将有助于开发治疗新生儿呼吸系统疾病的新策略。
