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

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

doi:10.1136/bcr.10.2010.3427

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

BMJ Case Rep. 2011 Mar 3:2011:bcr1020103427. doi: 10.1136/bcr.10.2010.3427.

Authors

Hussain Parappil¹, Ahmad Al Baridi, Sajjad ur Rahman, Mahmood H Kitchi, P Ruef, M Griese, P Lohse, C Aslanidis, G Schmitz, L Koch, J Poeschl

Affiliation

¹ Department of Neonatology, Women's Hospital, Hamad Medical Corporation, Doha, State of Qatar.

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.

Publication types

Case Reports

MeSH terms

ATP-Binding Cassette Transporters / genetics*
Female
Homozygote
Humans
Infant, Newborn
Mutation*
Respiratory Distress Syndrome, Newborn / genetics*
Term Birth

Substances

ABCA3 protein, human
ATP-Binding Cassette Transporters