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Clinical, radiological and genetic analysis of a male infant with neonatal respiratory distress syndrome.
- Source :
-
Experimental and therapeutic medicine [Exp Ther Med] 2013 Apr; Vol. 5 (4), pp. 1157-1160. Date of Electronic Publication: 2013 Feb 21. - Publication Year :
- 2013
-
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 hyper-inflation, 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.
Details
- Language :
- English
- ISSN :
- 1792-0981
- Volume :
- 5
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Experimental and therapeutic medicine
- Publication Type :
- Academic Journal
- Accession number :
- 23596483
- Full Text :
- https://doi.org/10.3892/etm.2013.970