Abstract
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.
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References
Gower WA, Wert SE, Nogee LM. Inherited surfactant disorders. Neoreviews. 2008;9:e458–67.
Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M. ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med. 2004;350:1296–303.
Hamvas A. Evaluation and management of inherited disorders of surfactant metabolism. Chin Med J. 2010;123:2943–7.
Wert SE, Whitsett JA, Nogee LM. Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol. 2009;12:253–74.
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Panigrahy, N., Poddutoor, P.K. & Chirla, D.K. ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome. Indian Pediatr 51, 579–580 (2014). https://doi.org/10.1007/s13312-014-0454-4
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DOI: https://doi.org/10.1007/s13312-014-0454-4