Indian pediatrics · 2014
ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Panigrahy Nalinikant, Poddutoor Preetham Kumar, Chirla Dinesh Kumar
Аннотация
BACKGROUND: Surfactant protein abnormalities are rare causes of respiratory distress syndrome.
CASE CHARACTERISTICS: A late preterm (36 wks) who presented with respiratory distress syndrome.
OBSERVATION: He was found to be a homozygous for a G to T transversion at the first base in intron 24, of ABCA3 gene which is necessary for lamellar body formation and surfactant production.
OUTCOME: He died of severe respiratory failure even after multiple doses of surfactants and ventilation.
MESSAGE: Surfactant deficiency with ABCA3 gene mutation needs to be suspected in late preterms who present with respiratory distress syndrome.
CASE CHARACTERISTICS: A late preterm (36 wks) who presented with respiratory distress syndrome.
OBSERVATION: He was found to be a homozygous for a G to T transversion at the first base in intron 24, of ABCA3 gene which is necessary for lamellar body formation and surfactant production.
OUTCOME: He died of severe respiratory failure even after multiple doses of surfactants and ventilation.
MESSAGE: Surfactant deficiency with ABCA3 gene mutation needs to be suspected in late preterms who present with respiratory distress syndrome.