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Updated: Aug 23, 2025

Surfactant Depletion Combined with Injurious Ventilation Results in a Reproducible Model of the Acute Respiratory Distress Syndrome ARDS
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Congenital Surfactant C Deficiency with Pulmonary Hypertension-A Case Report

Wei Chard Chua1, I-Chen Chen1,2,3, Yi-Ching Liu1

  • 1Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung 807, Taiwan.

Children (Basel, Switzerland)
|October 27, 2022
PubMed

Insights

Genetic mutations in surfactant protein C cause childhood interstitial lung disease. A case study shows successful hydroxychloroquine treatment for an infant with this condition and secondary pulmonary hypertension.

Area of Science:

  • Pediatric Pulmonology
  • Genetic Lung Diseases
  • Respiratory Medicine

Background:

  • Childhood interstitial lung diseases (chILD) encompass diverse etiologies.
  • Genetic testing reveals surfactant protein mutations as a cause of chILD.
  • Surfactant protein deficiencies present with variable severity, from neonatal acute respiratory distress syndrome to chronic lung disease.

Observation:

  • An 11-month-old female infant presented with symptoms of interstitial lung disease.
  • The infant was diagnosed with surfactant protein C deficiency.
  • Secondary pulmonary hypertension was identified as a complication.

Findings:

  • Genetic analysis confirmed surfactant protein C deficiency as the underlying cause.
  • The patient received hydroxychloroquine treatment.
  • Successful clinical improvement was observed following treatment.

Implications:

  • Hydroxychloroquine may be a viable therapeutic option for surfactant protein C deficiency-related lung disease.
  • This case highlights the importance of genetic testing in diagnosing pediatric lung conditions.
  • Further research into targeted therapies for genetic surfactant protein disorders is warranted.

Keywords:
childhood interstitial lung diseasediffuse lung diseasegenetic testinghydroxychloroquinepediatricpulmonary hypertension

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