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

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机构： [a]Affiliated Bayi Children's Hospital, Beijing Military Region General Hospital, Beijing 100700, China [b]Center for Liver Cirrhosis, No. 302 Hospital of PLA, Beijing 100039, China

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关键词： Deficiency Mutation Respiratory distress syndrome Surfactant protein b

摘要：

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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出版当年[2012]版：

大类 | 4 区医学

小类 | 4 区医学：研究与实验

最新[2023]版：

大类 | 4 区医学

小类 | 4 区医学：研究与实验

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