Genetic risk factors associated with respiratory distress syndrome
作者： Heui Seung Jo
DOI: 10.3345/KJP.2014.57.4.157
关键词:
摘要: Respiratory distress syndrome (RDS) among preterm infants is typically due to a quantitative deficiency of pulmonary surfactant. Aside from the degree prematurity, diverse environmental and genetic factors can affect development RDS. The variance risk RDS in various races/ethnicities or monozygotic/dizygotic twins has suggested influences on this disorder. So far, several specific mutations genes encoding surfactant-associated molecules have confirmed this. Specific variants contributing regulation development, its structure function, inflammatory response could be candidate for This review summarizes background that suggests predisposition RDS, identified mutations, polymorphisms surfactant proteins associated with
kjp.or.kr参考文章(89)
D. S. Phelps, D. E. deMello, G. Patel, J. Floros, D. Lagunoff, Expression of the 35kDa and low molecular weight surfactant-associated proteins in the lungs of infants dying with respiratory distress syndrome. American Journal of Pathology. ,vol. 134, pp. 1285- 1293 ,(1989)
M. Griese, J.J.P. Gille, F.A.B.A. Schuerman, L.A. Noorduyn, A.H. van Kaam, F. Brasch, Surfactant protein B deficiency caused by a novel mutation involving multiple exons of the SP-B gene European Journal of Medical Research. ,vol. 13, pp. 281- 286 ,(2008)
Ook Joon Yoo, In Kyu Lee, Jung Ho Ko, Jung Su Suk, Young Hee Kim, Chong Woo Bae, Myung Ho Oh, Kyung Shin Lee, Allele Distribution and Frequency of Human SurfactantProtein-A1 in Korean Neonates Korean Journal of Pediatrics. ,vol. 45, pp. 1497- 1502 ,(2002)
Ajibayo Akinkugbe, Samuel A. Olowe, Amniotic fluid lecithin/sphingomyelin ratio: comparison between an African and North American community. Pediatrics. ,vol. 62, pp. 38- 41 ,(1978)
Neal J. Thomas, Ruzong Fan, Susan DiAngelo, Joseph C. Hess, Joanna Floros, Haplotypes of the surfactant protein genes A and D as susceptibility factors for the development of respiratory distress syndrome. Acta Paediatrica. ,vol. 96, pp. 985- 989 ,(2007) , 10.1111/J.1651-2227.2007.00319.X
L. Krizkova, R. Sakthivel, S. A. Olowe, P. K. Rogan, J. Floros, Human SP-A: genotype and single-strand conformation polymorphism analysis American Journal of Physiology-lung Cellular and Molecular Physiology. ,vol. 266, ,(1994) , 10.1152/AJPLUNG.1994.266.5.L519
Lawrence M. Nogee, Benjamin C. Planer, Philip L. Ballard, Roberta A. Ballard, Michael A. Moxley, Michael F. Beers, Daphne E. deMello, Lori Polk, William J. Longmore, Partial Deficiency of Surfactant Protein B in an Infant With Chronic Lung Disease Pediatrics. ,vol. 96, pp. 1046- 1052 ,(1995)
Philip M. Farrell, Robert E. Wood, Epidemiology of Hyaline Membrane Disease in the United States: Analysis of National Mortality Statistics Pediatrics. ,vol. 58, pp. 167- 176 ,(1976)
Mikko Hallman, Riitta Marttila, Riccardo Pertile, Marja Ojaniemi, Ritva Haataja, Genes and Environment in Common Neonatal Lung Disease Neonatology. ,vol. 91, pp. 298- 302 ,(2007) , 10.1159/000101345
Lawrence M. Nogee, Surfactant Protein-B Deficiency Chest. ,vol. 111, pp. 129S- 135S ,(1997) , 10.1378/CHEST.111.6_SUPPLEMENT.129S-A