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Updated: Jul 15, 2025

Surfactant Depletion Combined with Injurious Ventilation Results in a Reproducible Model of the Acute Respiratory Distress Syndrome ARDS
06:22

Surfactant Depletion Combined with Injurious Ventilation Results in a Reproducible Model of the Acute Respiratory Distress Syndrome ARDS

Published on: April 7, 2021

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Surfactant Deficiency Causing Severe Pneumonia in a Child

Inva Gjeta1, Durim Sala1, Ilirjana Bakalli1

  • 1Division of Pediatric Intensive Care Unit, University Hospital Center 'Mother Theresa', Tirana, Albania.

Current Health Sciences Journal
|October 2, 2023
PubMed

Insights

Surfactant deficiency, a rare genetic disorder, can cause severe lung disease in children. This case highlights ABCA3 dysfunction as a cause of Pediatric Acute Respiratory Distress Syndrome (PARDS) and interstitial pneumonia.

Area of Science:

  • Pediatric Pulmonology
  • Medical Genetics
  • Rare Diseases

Background:

  • Surfactant deficiency is a rare genetic disorder with a wide clinical spectrum, from neonatal lethality to chronic interstitial lung disease.
  • Pediatric Acute Respiratory Distress Syndrome (PARDS) can result from various underlying conditions, including genetic disorders affecting lung function.

Observation:

  • A 2-year-7-month-old child presented with PARDS secondary to bilateral interstitial pneumonia.
  • The child received supportive care, including mechanical ventilation, antibiotics, and corticosteroids.

Findings:

  • Genetic examination revealed surfactant metabolism dysfunction due to ABCA3 gene mutation.
  • This specific genetic defect, ABCA3 dysfunction, was identified as the cause of the child's severe respiratory illness.

Implications:

  • This case underscores the importance of considering rare genetic surfactant deficiencies in children with recurrent or unexplained pneumonia and respiratory distress.
  • Early diagnosis of genetic surfactant metabolism dysfunction is crucial for appropriate management and can prevent misdiagnosis of common respiratory infections.
  • Highlighting ABCA3 mutations as a cause of PARDS expands the differential diagnosis for severe pediatric respiratory failure.

Keywords:
Genetic Test.Interstitial PneumoniaPARDSSurfactant dysfunction

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