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Surfactant Protein C Deficiency in a Puerto Rican Adolescent With a Rare SFTPC Genetic Variant

Victor Acosta-Rivera1,2, Jesus M Melendez-Montañez3, Francisco Diaz-Sotomayor4

  • 1Department of Internal Medicine, University of Massachusetts Medical School, Massachusetts, USA.

Cureus
|September 30, 2021
PubMed

Insights

Surfactant protein C (SP-C) deficiency, caused by SFTPC gene mutations, can lead to interstitial lung disease. This case highlights a rare mutation in a Puerto Rican child, expanding knowledge of SP-C deficiency.

Area of Science:

  • Pulmonary Medicine
  • Genetics
  • Pediatric Pulmonology

Background:

  • Surfactant protein C (SP-C) is crucial for lung function, maintaining alveolar surface tension and defense.
  • Mutations in the SFTPC gene are linked to childhood interstitial lung disease (ILD).
  • SFTPC mutations exhibit autosomal dominant inheritance with variable expressivity and reduced penetrance.

Observation:

  • A 13-year-old male presented with oxygen-dependent ILD and severe pulmonary hypertension.
  • Genetic analysis and lung biopsy confirmed SP-C deficiency.
  • The patient harbored a rare heterozygous IVS4+2 mutation in the SFTPC gene.

Findings:

  • This report details the first documented case of SP-C deficiency in the Puerto Rican population.
  • It represents the second reported instance worldwide of the specific IVS4+2 mutation.
  • The findings underscore the genetic basis of ILD and its diverse clinical presentations.

Implications:

  • This case expands the known spectrum of SFTPC mutations causing pediatric ILD.
  • It highlights the importance of genetic testing in diagnosing rare lung diseases.
  • Further research into SP-C deficiency mechanisms may inform therapeutic strategies for ILD.

Keywords:
childhood interstitial lung diseasedigital clubbingrare lung diseasesftpc mutationssurfactant protein c

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