ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome

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...

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Bibliographic Details
Published in:Indian pediatrics 2014-07, Vol.51 (7), p.579-580
Main Authors: Panigrahy, Nalinikant, Poddutoor, Preetham Kumar, Chirla, Dinesh Kumar
Format: Article
Language:English
Subjects:
ATP-Binding Cassette Transporters - genetics
Case Reports
Female
Humans
Infant, Premature
Male
Maternal and Child Health
Medicine
Medicine & Public Health
Mutation - genetics
Pediatric Surgery
Pediatrics
Pregnancy
Respiratory Distress Syndrome, Newborn
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Summary: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.
ISSN:0019-6061
0974-7559
DOI:10.1007/s13312-014-0454-4