Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate. (3rd March 2011)

• Record Type: Journal Article
• Authors: Parappil, Hussain; Al Baridi, Ahmad; ur Rahman, Sajjad; Kitchi, Mahmood H; Ruef, P; Griese, M; Lohse, P; Aslanidis, C; Schmitz, G; Koch, L; Poeschl, J
• Is Part Of: BMJ case reports. Volume 2011
• Publication Date: 2011-03-03
• Subjects: Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr.10.2010.3427
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : The authors report, for the first time in the literature, a case of respiratory distress syndrome in a term baby due to homozygosity for a p.Trp308Arg/W308R substitution in the ATP-binding cassette transporter 3. The sequence was confirmed by genetic analysis of the baby and both parents. Management and long-term outcome of a patient carrying this novel genetic defect have not been reported in the literature before. Currently, lung transplant appears to be the only long-term survival option available, for which, our patient is being evaluated.