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Child Interstitial Lung Disease in an Infant with Surfactant Protein C Dysfunction due to c.202G>T Variant (p.V68F)

Hyunbin Park1, Aneela Bidiwala1, Laura A Conrad1

  • 1Division Respiratory and Sleep Medicine, Department of Pediatrics, Albert Einstein College of Medicine, Children's Hospital at Montefiore, 3415 Bainbridge Avenue, Bronx, NY, 10467, USA.

Lung
|January 16, 2022
PubMed

Insights

Interpreting genetic variants in surfactant protein C is crucial for diagnosing childhood interstitial lung disease (ChILD). A variant initially deemed unknown significance was reclassified, but the infant showed limited treatment response, highlighting diagnostic challenges.

Area of Science:

  • Pediatric Pulmonology
  • Medical Genetics
  • Rare Lung Diseases

Background:

  • Childhood interstitial lung disease (ChILD) diagnosis relies on genetic testing for surfactant protein genes.
  • Interpreting the clinical significance of identified genetic variants remains a significant challenge.

Purpose of the Study:

  • To report a case of ChILD with a surfactant protein C variant of unknown significance.
  • To discuss the complexities in interpreting genetic findings for pediatric lung diseases.

Main Methods:

  • Case report of a full-term infant with respiratory distress and failure to thrive.
  • Genetic sequencing for surfactant protein genes.
  • Clinical, imaging, and histopathological evaluation for ChILD.

Main Results:

  • Infant diagnosed with ChILD, initially showing a variant of unknown significance in surfactant protein C (c.202G>T, p.V68F).
  • Variant reclassified as likely pathogenic based on prior reports.
  • Despite treatment, the infant showed poor clinical improvement, necessitating tracheostomy and awaiting lung transplantation.

Conclusions:

  • The interpretation and clinical correlation of genetic variants in ChILD require careful consideration.
  • Challenges in variant interpretation can impact patient management and outcomes.
  • Further research is needed to clarify the pathogenicity and clinical relevance of genetic variants in ChILD.

Keywords:
InfantInterstitial lung diseaseRespiratory failureSFTPCSurfactant protein C

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