| Autor: |
Parappil H; Department of Neonatology, Women's Hospital, Hamad Medical Corporation, Doha, State of Qatar., Al Baridi A, ur Rahman S, Kitchi MH, Ruef P, Griese M, Lohse P, Aslanidis C, Schmitz G, Koch L, Poeschl J |
| Jazyk: |
angličtina |
| Zdroj: |
BMJ case reports [BMJ Case Rep] 2011 Mar 03; Vol. 2011. Date of Electronic Publication: 2011 Mar 03. |
| DOI: |
10.1136/bcr.10.2010.3427 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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