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An SFTPC gene mutation causes childhood interstitial lung disease: first report in the Arab region

Mohammed A Alzaid1, Safa Eltahir2, Muhammad Amin Ur Rahman3

  • 1Pediatric Department, King Fahad Medical City, Saudi Arabia.

JRSM Open
|February 26, 2020
PubMed

Insights

Surfactant protein C dysfunction, a cause of childhood interstitial lung disease, is reported for the first time in the Arab region. This case highlights the importance of genetic testing for diagnosing rare lung diseases in children.

Area of Science:

  • Pediatric Pulmonology
  • Rare Genetic Diseases
  • Interstitial Lung Disease

Background:

  • Surfactant protein C (SP-C) dysfunction is a known cause of pediatric interstitial lung disease (chILD).
  • Previous reports of SP-C dysfunction have not included cases from the Arabian Peninsula.

Observation:

  • A six-year-old girl presented with persistent respiratory symptoms including cough, dyspnea, and hypoxemia since infancy.
  • Initial diagnosis of gastroesophageal reflux disease did not resolve symptoms, necessitating further investigation.
  • Clinical presentation included bronchiolitis in infancy, followed by chronic respiratory distress.

Findings:

  • Chest CT scan, lung biopsy, and genetic testing confirmed SP-C dysfunction.
  • The patient's persistent respiratory symptoms were attributed to a genetic defect in surfactant protein C.
  • This represents the first documented case of SP-C deficiency-related chILD in the Arab region.

Implications:

  • This case expands the geographic reporting of SP-C dysfunction.
  • Highlights the need for considering genetic testing in pediatric interstitial lung disease, especially in undiagnosed or treatment-refractory cases.
  • Emphasizes the importance of early diagnosis and genetic confirmation for appropriate management of chILD.
Abstract

Keywords:
SFTPCchildinterstitialprotein Csurfactant

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