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Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate.


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.

SUBMITTER: Parappil H 

PROVIDER: S-EPMC3063289 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature

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Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate.

Parappil Hussain H   Al Baridi Ahmad A   ur Rahman Sajjad S   Kitchi Mahmood H MH   Ruef P P   Griese M M   Lohse P P   Aslanidis C C   Schmitz G G   Koch L L   Poeschl J J  

BMJ case reports 20110303


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 avai  ...[more]

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