open access
Vol 78, No 3 (2010)
REVIEWS
Published online: 2010-05-11
Submitted: 2013-02-22
Get Citation
Interstitial lung disease associated with surfactant protein B and C deficiencies
Aleksandra Szczawińska-Popłonyk, Anna Bręborowicz, Renata Langfort
Pneumonol Alergol Pol 2010;78(3):224-228.
open access
Vol 78, No 3 (2010)
REVIEWS
Published online: 2010-05-11
Submitted: 2013-02-22
Abstract
Etiology and pathogenesis of the interstitial lung disease in children result from a heterogeneous group of infectious,
immunological and metabolic factors. In children an important role plays a surfactant protein B and C deficiency. SP-C
deficiency is determined by it’s defective synthesis or impaired production of ABCA3 transporter, as well as with abnormalities
within different metabolic pathways. In the paper clinical manifestation, radiological findings, molecular background and
prognosis in interstitial lung diseases associated with SP-B and SP-C defects have been discussed.
Abstract
Etiology and pathogenesis of the interstitial lung disease in children result from a heterogeneous group of infectious,
immunological and metabolic factors. In children an important role plays a surfactant protein B and C deficiency. SP-C
deficiency is determined by it’s defective synthesis or impaired production of ABCA3 transporter, as well as with abnormalities
within different metabolic pathways. In the paper clinical manifestation, radiological findings, molecular background and
prognosis in interstitial lung diseases associated with SP-B and SP-C defects have been discussed.
Get Citation
Keywords
interstitial lung disease; surfactant; children
About this articleTitle
Interstitial lung disease associated with surfactant protein B and C deficiencies
Journal
Advances in Respiratory Medicine
Issue
Pages
224-228
Published online
2010-05-11
Bibliographic record
Pneumonol Alergol Pol 2010;78(3):224-228.
Keywords
interstitial lung disease
surfactant
children
Authors
Aleksandra Szczawińska-Popłonyk
Anna Bręborowicz
Renata Langfort
References (30)- Canakis AM, Cutz E, Manson D, et al. Pulmonary interstitial glycogenosis: a new variant of neonatal interstitial lung disease. Am J Respir Crit Care Med. 2002; 165(11): 1557–1565.
- Deterding RR, Fan LL, Morton R, et al. Persistent tachypnea of infancy (PTI)--a new entity. Pediatr Pulmonol. 2001; Suppl 23: 72–73.
- Nogee LM. Alterations in SP-B and SP-C expression in neonatal lung disease. Annu Rev Physiol. 2004; 66: 601–623.
- Lyra PP, Diniz EM. The importance of surfactant on the development of neonatal pulmonary diseases. Clinics (Sao Paulo). 2007; 62(2): 181–190.
- McFetridge L, McMorrow A, Morrison PJ, et al. Surfactant Metabolism Dysfunction and Childhood Interstitial Lung Disease (chILD). Ulster Med J. 2009; 78(1): 7–9.
- Hartl D, Griese M. Interstitial lung disease in children -- genetic background and associated phenotypes. Respir Res. 2005; 6: 32–48.
- Tredano M, Blic JD, Griese M, et al. [Clinical, biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism: SP-B deficiency and alveolar proteinosis]. Ann Biol Clin (Paris). 2001; 59(2): 131–148.
- Tredano M, Griese M, Brasch F, et al. Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. Am J Med Genet A. 2004; 126A(1): 18–26.
- Whitsett JA, Wert SE, Weaver TE, et al. Genetic disorders of surfactant homeostasis. Biol Neonate. 2005; 87(4): 240–242.
- Yurdakök M. Inherited disorders of neonatal lung diseases. Turk J Pediatr. 2004; 46(2): 105–114.
- Klein JM, Thompson MW, Snyder JM, et al. Transient surfactant protein B deficiency in a term infant with severe respiratory failure. J Pediatr. 1998; 132(2): 244–248.
- Dunbar AE, Wert SE, Ikegami M, et al. Prolonged survival in hereditary surfactant protein B (SP-B) deficiency associated with a novel splicing mutation. Pediatr Res. 2000; 48(3): 275–282.
- Makri V, Hospes B, Stoll-Becker S, et al. Polymorphisms of surfactant protein B encoding gene: modifiers of the course of neonatal respiratory distress syndrome? Eur J Pediatr. 2002; 161(11): 604–608.
- Haataja R, Hallman M. Surfactant proteins as genetic determinants of multifactorial pulmonary diseases. Ann Med. 2002; 34(5): 324–333.
- Percopo S, Cameron HS, Nogee LM, et al. Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. Eur Respir J. 2004; 24(6): 1072–1073.
- Lawson WE, Grant SW, Ambrosini V, et al. Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF. Thorax. 2004; 59(11): 977–980.
- Beers MF, Mulugeta S. Surfactant protein C biosynthesis and its emerging role in conformational lung disease. Annu Rev Physiol. 2005; 67: 663–696.
- Augusto LA, Synguelakis M, Johansson J, et al. Interaction of pulmonary surfactant protein C with CD14 and lipopolysaccharide. Infect Immun. 2003; 71(1): 61–67.
- Whitsett JA, Wert SE, Weaver TE, et al. Genetic disorders of surfactant homeostasis. Biol Neonate. 2005; 87(4): 283–287.
- Park KS, Whitsett JA, Di Palma T, et al. TAZ interacts with TTF-1 and regulates expression of surfactant protein-C. J Biol Chem. 2004; 279(17): 17384–17390.
- Matsuzaki Y, Besnard V, Clark JC, et al. STAT3 regulates ABCA3 expression and influences lamellar body formation in alveolar type II cells. Am J Respir Cell Mol Biol. 2008; 38(5): 551–558.
- Yoshida I, Ban N, Inagaki N. Expression of ABCA3, a causative gene for fatal surfactant deficiency, is up-regulated by glucocorticoids in lung alveolar type II cells. Biochem Biophys Res Commun. 2004; 323(2): 547–555.
- Doan ML, Guillerman RP, Dishop MK, et al. Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax. 2008; 63(4): 366–373.
- Bullard JE, Wert SE, Whitsett JA, et al. ABCA3 mutations associated with pediatric interstitial lung disease. Am J Respir Crit Care Med. 2005; 172(8): 1026–1031.
- Bullard JE, Nogee LM. Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation. Pediatr Res. 2007; 62(2): 176–179.
- Nogee L. Genetics of pediatric interstitial lung disease. Current Opinion in Pediatrics. 2006; 18(3): 287–292.
- Hamvas A, Cole FS, Nogee LM. Genetic disorders of surfactant proteins. Neonatology. 2007; 91(4): 311–317.
- Wert SE, Whitsett JA, Nogee LM. Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol. 2009; 12(4): 253–274.
- Zhou J, You Y, Ryan AJ, et al. Upregulation of surfactant synthesis triggers ABCA1-mediated basolateral phospholipid efflux. J Lipid Res. 2004; 45(9): 1758–1767.
- Tredano M, Blic JD, Griese M, et al. [Clinical, biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism: SP-B deficiency and alveolar proteinosis]. Ann Biol Clin (Paris). 2001; 59(2): 131–148.