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New disease
Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate
  1. Hussain Parappil1,2,
  2. Ahmad Al Baridi1,
  3. Sajjad ur Rahman1,2,
  4. Mahmood H Kitchi3,
  5. P Ruef4,
  6. M Griese5,
  7. P Lohse6,
  8. C Aslanidis7,
  9. G Schmitz7,
  10. L Koch4,
  11. J Poeschl4
  1. 1Department of Neonatology, Women's Hospital, Hamad Medical Corporation, Doha, State of Qatar
  2. 2Department of Pediatrics, Weill Cornell Medical College, Doha, State of Qatar
  3. 3Pediatric Intensive Care Unit, Hamad Medical Corporation, Doha, State of Qatar
  4. 4Department of Neonatology, University Children's Hospital of Heidelberg, Heidelberg, Germany
  5. 5Dr von Haunersches Kinderspital, University of Munich, Munich, Germany
  6. 6Department of Clinical Chemistry – Großhadern, University of Munich, Munich, Germany
  7. 7Department of Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg, Germany
  1. Correspondence to Dr Sajjad ur Rahman, Srahman4{at}hmc.org.qa

Summary

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.

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Footnotes

  • Competing interests None.

  • Patient consent Obtained.

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