title: Clinical, radiological and genetic analysis of a male infant with neonatal respiratory distress syndrome.
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.
authors.affiliation: Affiliated Bayi Children's Hospital, Beijing Military Region General Hospital, Beijing 100700;
authors.forename: Xiaojuan
authors.initials: X
authors.lastname: Yin
authors.forename: Fanping
authors.initials: F
authors.lastname: Meng
authors.forename: Wenwen
authors.initials: W
authors.lastname: Qu
authors.forename: Hanxiao
authors.initials: H
authors.lastname: Fan
authors.forename: Lu
authors.initials: L
authors.lastname: Xie
authors.forename: Zhichun
authors.initials: Z
authors.lastname: Feng
keywords: deficiency; mutation; respiratory distress syndrome; surfactant protein B