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Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress
Joint Authors
Tarocco, Anna
Ballardini, Elisa
Contiero, Maria Raffaella
Garani, Giampaolo
Fanaro, Silvia
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-04-27
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
Multiple mutations of surfactant genes causing surfactant dysfunction have been described.
Surfactant protein C (SP-C) deficiency is associated with variable clinical manifestations ranging from neonatal respiratory distress syndrome to lethal lung disease.
We present an extremely low birth weight male infant with an unusual course of respiratory distress syndrome associated with two mutations in the SFTPC gene: C43-7G>A and 12T>A.
He required mechanical ventilation for 26 days and was treated with 5 subsequent doses of surfactant with temporary and short-term efficacy.
He was discharged at 37 weeks of postconceptional age without any respiratory support.
During the first 16 months of life he developed five respiratory infections that did not require hospitalization.
Conclusion.
This mild course in our patient with two mutations is peculiar because the outcome in patients with a single SFTPC mutation is usually poor.
American Psychological Association (APA)
Tarocco, Anna& Ballardini, Elisa& Contiero, Maria Raffaella& Garani, Giampaolo& Fanaro, Silvia. 2015. Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress. Case Reports in Pediatrics،Vol. 2015, no. 2015, pp.1-3.
https://search.emarefa.net/detail/BIM-1059786
Modern Language Association (MLA)
Tarocco, Anna…[et al.]. Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress. Case Reports in Pediatrics No. 2015 (2015), pp.1-3.
https://search.emarefa.net/detail/BIM-1059786
American Medical Association (AMA)
Tarocco, Anna& Ballardini, Elisa& Contiero, Maria Raffaella& Garani, Giampaolo& Fanaro, Silvia. Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress. Case Reports in Pediatrics. 2015. Vol. 2015, no. 2015, pp.1-3.
https://search.emarefa.net/detail/BIM-1059786
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1059786