Congenital surfactant deficiency due to ABCA3 mutations leading to fatal respiratory failure in a newborn
Authors:
M. Navratilova 1; H. Hornychová 2; Z. Kokštein 1; J. Malý 1
Authors‘ workplace:
Dětská klinika FN a LF UK, Hradec Královépřednosta prof. MUDr. M. Bayer, CSc.
1; Fingerlandův ústav patologie FN a LF UK, Hradec Královépřednosta prof. MUDr. A. Ryška, Ph. D.
2
Published in:
Čes-slov Pediat 2013; 68 (3): 161-166.
Category:
Case Report
Overview
Inherited disorders of surfactant metabolism present as acute severe respiratory failure in the neonatal period or as chronic respiratory insufficiency in later infancy and childhood. We report the first case of genetically proved surfactant deficiency in term newborn in the Czech Republic leading to lethal respiratory failure. This is also the first proof of these mutations at all. The two heterozygous mutations in ABCA3 gene – in exon 24 M 1227R and in exon 29 Ins1510fs/ter1519 have never been published yet.
Key words:
newborn, surfactant deficiency, ABCA3 mutations
Sources
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5. Shulenin S, Nogee LM, Annilo T, et al. ABCA3 gene mutations in newborns with fatal surfactant deficiency. New Engl J Med 2004; 350: 1296–1303.
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Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2013 Issue 3
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