Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate.
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.
Department of Neonatology, Women's Hospital, Hamad Medical Corporation, Doha, State of Qatar.
Hussain
H
Parappil
Ahmad
A
Al Baridi
Sajjad
S
ur Rahman
Mahmood H
MH
Kitchi
P
P
Ruef
M
M
Griese
P
P
Lohse
C
C
Aslanidis
G
G
Schmitz
L
L
Koch
J
J
Poeschl
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics*; D047929:Term Birth
C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters