Clinical, radiological and genetic analysis of a male infant with neonatal respiratory distress syndrome

Yin,Xiaojuan; Meng,Fanping; Qu,Wenwen; Fan,Hanxiao; Xie,Lu; Feng,Zhichun

doi:10.3892/etm.2013.970

April 2013 Volume 5 Issue 4

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April 2013 Volume 5 Issue 4

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Article

Clinical, radiological and genetic analysis of a male infant with neonatal respiratory distress syndrome

Authors:
- Xiaojuan Yin
- Fanping Meng
- Wenwen Qu
- Hanxiao Fan
- Lu Xie
- Zhichun Feng
View Affiliations / Copyright

Affiliations: Affiliated Bayi Children's Hospital, Beijing Military Region General Hospital, Beijing 100700, P.R. China, Center for Liver Cirrhosis, No. 302 Hospital of PLA, Beijing 100039, P.R. China
Pages: 1157-1160
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Published online on: February 21, 2013

https://doi.org/10.3892/etm.2013.970
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Abstract

Surfactant protein B (SP-B) deficiency has become increasingly recognized as a cause of severe prolonged respiratory distress. However, little has been reported with regard to the genetic variability of SP-B in Chinese infants with neonatal respiratory distress syndrome (RDS). One case of a Chinese male infant with neonatal RDS was analyzed for clinical manifestation and genetic variability of SP-B. The clinical manifestations, including grunting, intercostal retractions, nasal flaring, cyanosis and tachypnea were discovered in the physical examination. The initial chest X-ray indicated hyperinflation, diffuse opacification and air bronchogram of the lungs. Pathological tests of lung tissue revealed RDS and SP-B deficiency. Atelectasis and pneumonedema were observed in the lobes of the lung. Molecular analysis of genomic DNA revealed a mutation of 121del2 in intron 4 of the SP-B gene. In conclusion, the variant in intron 4 of the SP-B gene was associated with neonatal RDS in a Chinese male infant.

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1	Lyra PP, Diniz EM, Abe-Sandes K, Angelo AL, Machado TM and Cardeal M: Surfactant protein B gene polymorphism in preterm babies with respiratory distress syndrome. Braz J Med Biol Res. 44:66–72. 2011. View Article : Google Scholar : PubMed/NCBI
2	Yin XJ, Li LH, Wang Y, Xie L and Feng ZC: A study on expression of surfactant protein B in neonatal respiratory distress syndrome. Chin J Neonatol. 26:336–339. 2011.
3	Floros J, Veletza SV, Kotikalapudi P, Krizkova L, Karinch AM, Friedman C, Buchter S and Marks K: Dinucleotide repeats in the human surfactant protein-B gene and respiratory-distress syndrome. Biochem J. 305:583–590. 1995.PubMed/NCBI
4	Gong MN, Wei Z, Xu LL, Miller DP, Thompson BT and Christiani DC: Polymorphism in the surfactant protein-B gene, gender and the risk of direct pulmonary injury and ARDS. Chest. 125:203–211. 2004. View Article : Google Scholar : PubMed/NCBI
5	Hugosson CO, Salama HM, Al-Dayel F, Khoumais N and Kattan AH: Primary alveolar capillary dysplasia (acinar dysplasia) and surfactant protein B deficiency: a clinical, radiological and pathological study. Pediatr Radiol. 35:311–316. 2005. View Article : Google Scholar
6	Lin Z, Thomas NJ, Wang Y, Guo X, Seifart C, Shakoor H and Floros J: Deletions within a CA-repeat-rich region of intron 4 of the human SP-B gene affect mRNA splicing. Biochem J. 389:403–412. 2005. View Article : Google Scholar : PubMed/NCBI
7	Clark JC, Weaver TE, Iwamoto HS, Ikegami M, Jobe AH, Hull WM and Whitsett JA: Decreased lung compliance and air trapping in heterozygous SP-B-deficient mice. Am J Respir Cell Mol Biol. 16:46–52. 1997. View Article : Google Scholar : PubMed/NCBI
8	Clark JC, Wert SE, Bachurski CJ, Stahlman MT, Stripp BR, Weaver TE and Whitsett JA: Targeted disruption of the surfactant protein B gene disrupts surfactant homeostasis, causing respiratory failure in newborn mice. Proc Natl Acad Sci U S A. 92:7794–7798. 1995. View Article : Google Scholar : PubMed/NCBI
9	Epaud R, Ikegami M, Whitsett JA, Jobe AH, Weaver TE and Akinbi HT: Surfactant protein B inhibits endotoxin-induced lung inflammation. Am J Respir Cell Mol Biol. 28:373–378. 2003. View Article : Google Scholar : PubMed/NCBI
10	Pilot-Matias TJ, Kister SE, Fox JL, Kropp K, Glasser SW and Whitsett JA: Structure and organization of the gene encoding human pulmonary surfactant proteolipid SP-B. DNA. 8:75–86. 1989. View Article : Google Scholar : PubMed/NCBI
11	Vamvakopoulos NC, Modi WS and Floros J: Mapping the human pulmonary surfactant-associated protein B gene (SFTP3) to chromosome 2p12→p11.2. Cytogenet Cell Genet. 68:8–10. 1995.PubMed/NCBI
12	Jacobs KA, Phelps DS, Steinbrink R, Fisch J, Kriz R, Mitsock L, Dougherty JP, Taeusch HW and Floros J: Isolation of a cDNA clone encoding a high molecular weight precursor to a 6-kDa pulmonary surfactant-associated protein. J Biol Chem. 262:9808–9811. 1987.PubMed/NCBI
13	Weaver TE: Synthesis, processing and secretion of surfactant proteins B and C. Biochim Biophys Acta. 1408:173–179. 1998. View Article : Google Scholar : PubMed/NCBI
14	Hawgood S, Derrick M and Poulain F: Structure and properties of surfactant protein B. Biochim Biophys Acta. 1408:150–160. 1998. View Article : Google Scholar : PubMed/NCBI
15	Lyra PP, Vaz FAC, Moreira PE, Hoffmann JW, DeMello DE and Diniz EMA: Comparison of surfactant protein B polymorphisms of healthy term newborns with preterm newborns having respiratory distress syndrome. Braz J Med Biol Res. 40:779–789. 2007. View Article : Google Scholar : PubMed/NCBI
16	Ramet M, Haataja R, Marttila R, Floros J and Hallman M: Association between the surfactant protein A (SP-A) gene locus and respiratory-distress syndrome in the Finnish population. Am J Hum Genet. 66:1569–1579. 2000. View Article : Google Scholar : PubMed/NCBI
17	Haataja R, Marttila R, Uimari P, Lofgren J, Ramet M and Hallman M: Respiratory distress syndrome: evaluation of genetic susceptibility and protection by transmission disequilibrium test. Hum Genet. 109:351–355. 2001. View Article : Google Scholar : PubMed/NCBI

Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Clinical, radiological and genetic analysis of a male infant with neonatal respiratory distress syndrome

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