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Updated: Jul 18, 2026

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus
Published on: March 6, 2019
Surfactant protein polymorphisms and neonatal lung disease
1Department of Pediatrics and Biocenter Oulu, University of Oulu, Oulu, Finland. mikko.hallman@oulu.fi
Abstract:
Here, we describe the approach of defining the genetic contribution to disease and discuss the polymorphisms of some genes that are associated with respiratory disease. The common allelic variants of SP-A1, SP-A2, SP-B, SP-C, and SP-D genes are associated with respiratory distress syndrome (RDS), bronchopulmonary dysplasia (BPD), or respiratory syncytial virus (RSV) bronchiolitis. The main SP-A haplotype, interactively with SP-B Ile131Thr polymorphism and with constitutional and environmental factors, influences the risk of RDS. The polymorphisms of SP-A2 and SP-D are associated with the risk of severe RSV. The polymorphism may turn out to be important in susceptibility to influenza virus. The SP-B intron 4 deletion variant is the risk factor of BPD. Understanding the molecular mechanisms behind the hereditary risk may lead to new focused treatment strategies.
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