Neonatal respiratory failure due to a novel mutation in the surfactant protein C gene.
A full-term infant developed respiratory distress immediately after birth, requiring a prolonged course of extra-corporeal membrane oxygenation, followed by high-frequency ventilation. She was unable to wean off mechanical ventilation, required tracheostomy, and ultimately lung transplantation. A novel mutation in the surfactant C protein gene was identified as the cause of her lung disease.
Poterjoy
B S
BS
Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA 19134, USA. Brandon.Poterjoy@drexelmed.edu
Vibert
Y
Y
Sola-Visner
M
M
McGowan
J
J
Visner
G
G
Nogee
L M
LM
D005260:Female; D006801:Humans; D007231:Infant, Newborn; D016040:Lung Transplantation; D009154:Mutation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics*; D011859:Radiography; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics*; D012131:Respiratory Insufficiency / Q000000981:diagnostic imaging / Q000235:genetics* / Q000628:therapy
D037721:Pulmonary Surfactant-Associated Protein C