Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress
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 m...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2015/591783 |
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| author | Anna Tarocco Elisa Ballardini Maria Raffaella Contiero Giampaolo Garani Silvia Fanaro |
| author_facet | Anna Tarocco Elisa Ballardini Maria Raffaella Contiero Giampaolo Garani Silvia Fanaro |
| author_sort | Anna Tarocco |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-071340ab8af54068a2117a45b0fd639a |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-071340ab8af54068a2117a45b0fd639a2025-02-03T05:59:46ZengWileyCase Reports in Pediatrics2090-68032090-68112015-01-01201510.1155/2015/591783591783Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory DistressAnna Tarocco0Elisa Ballardini1Maria Raffaella Contiero2Giampaolo Garani3Silvia Fanaro4Pediatric Section, University Hospital S. Anna, Via Aldo Moro 8, 44124 Ferrara, ItalyNeonatal Intensive Care Unit and Neonatology, University Hospital S. Anna, Ferrara, ItalyNeonatal Intensive Care Unit and Neonatology, University Hospital S. Anna, Ferrara, ItalyNeonatal Intensive Care Unit and Neonatology, University Hospital S. Anna, Ferrara, ItalyNeonatal Intensive Care Unit and Neonatology, University Hospital S. Anna, Ferrara, ItalyMultiple 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.http://dx.doi.org/10.1155/2015/591783 |
| spellingShingle | Anna Tarocco Elisa Ballardini Maria Raffaella Contiero Giampaolo Garani Silvia Fanaro Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress Case Reports in Pediatrics |
| title | Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress |
| title_full | Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress |
| title_fullStr | Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress |
| title_full_unstemmed | Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress |
| title_short | Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress |
| title_sort | two mutations in surfactant protein c gene associated with neonatal respiratory distress |
| url | http://dx.doi.org/10.1155/2015/591783 |
| work_keys_str_mv | AT annatarocco twomutationsinsurfactantproteincgeneassociatedwithneonatalrespiratorydistress AT elisaballardini twomutationsinsurfactantproteincgeneassociatedwithneonatalrespiratorydistress AT mariaraffaellacontiero twomutationsinsurfactantproteincgeneassociatedwithneonatalrespiratorydistress AT giampaologarani twomutationsinsurfactantproteincgeneassociatedwithneonatalrespiratorydistress AT silviafanaro twomutationsinsurfactantproteincgeneassociatedwithneonatalrespiratorydistress |