title: SFTPC gene mutation p.R167Q in a premature infant.
abstract: We present an infant who was born premature at 23 weeks gestation with bronchopulmonary dysplasia and a SFTPC gene mutation, p.R167Q, who had a complicated neonatal course requiring 4 months of mechanical ventilation. Over time, his clinical course has improved, and he only requires oxygen by nasal cannula and low dose hydroxychloroquine, suggesting that p.R167Q mutation contributed to his clinical course and may manifest with a variable disease pattern making long-term prognostication difficult in the immediate newborn period.
authors.affiliation: Department of Pediatrics, University of Texas Health Science Center, Houston, Texas.
authors.forename: Cindy
authors.initials: C
authors.lastname: Jon
authors.forename: Paul K
authors.initials: PK
authors.lastname: Nolan
authors.forename: Mfon
authors.initials: M
authors.lastname: Ekong
authors.forename: Ricardo A
authors.initials: RA
authors.lastname: Mosquera
authors.forename: James M
authors.initials: JM
authors.lastname: Stark
mesh_terms: D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D001997:Bronchopulmonary Dysplasia / Q000150:complications / Q000503:physiopathology* / Q000628:therapy; D018450:Disease Progression; D006801:Humans; D062071:Infant, Extremely Premature; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D011649:Pulmonary Alveolar Proteinosis / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D037721:Pulmonary Surfactant-Associated Protein C / Q000172:deficiency / Q000235:genetics*; D012121:Respiration, Artificial
chemical_list: D000893:Anti-Inflammatory Agents; D037721:Pulmonary Surfactant-Associated Protein C; C489679:SFTPC protein, human
keywords: bronchopulmonary dysplasia; hydroxychloroquine; surfactant deficiency