SFTPC gene mutation p.R167Q in a premature infant
Cindy Jon1, Paul K Nolan, Mfon Ekong
1Department of Pediatrics, University of Texas Health Science Center, Houston, Texas.
Pediatric Pulmonology
|June 19, 2013
Summary
A premature infant with bronchopulmonary dysplasia and an SFTPC gene mutation (p.R167Q) experienced a complex neonatal period. This mutation may cause variable disease patterns, complicating long-term prognostication in newborns.
Area of Science:
- Neonatal medicine
- Genetics
- Pulmonology
Background:
- Premature infants face significant respiratory challenges.
- Bronchopulmonary dysplasia (BPD) is a common complication in preterm infants.
- Genetic factors can influence the severity and course of neonatal lung disease.
Observation:
- A 23-week premature infant presented with BPD and a specific SFTPC gene mutation (p.R167Q).
- The infant required prolonged mechanical ventilation for 4 months due to a complicated neonatal course.
- Clinical improvement was observed over time, with reduced oxygen dependency.
Findings:
- The SFTPC gene mutation, p.R167Q, is associated with the infant's complex clinical presentation.
- The mutation may contribute to a variable disease pattern in affected infants.
- Hydroxychloroquine was used as part of the treatment regimen.
Implications:
- Understanding the role of SFTPC mutations is crucial for managing BPD.
- The variable nature of this genetic condition poses challenges for accurate long-term prognostication.
- Further research into SFTPC-related lung diseases is warranted to improve patient outcomes.
More Related Videos
06:41In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017