Neonatal respiratory failure associated with mutation in the surfactant protein C gene.
We report on a term newborn with an unusual presentation and course of a rare lung disease due to mutation in SFTPC gene. This particular SFTPC mutation is novel, and the infant's lung disease was unusually severe compared to what has been previously reported in association with SFTPC mutations.
Soraisham
A S
AS
Division of Neonatology, Department of Pediatrics, Foothills Medical Centre, University of Calgary, Alberta, Canada. amuchou@yahoo.com
Tierney
A J
AJ
Amin
H J
HJ
D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics*; D011663:Pulmonary Surfactants / Q000627:therapeutic use; D011859:Radiography; D012121:Respiration, Artificial; D012127:Respiratory Distress Syndrome, Newborn / Q000000981:diagnostic imaging / Q000235:genetics* / Q000628:therapy
D037721:Pulmonary Surfactant-Associated Protein C; D011663:Pulmonary Surfactants