Recurrent diffuse lung disease due to surfactant protein C deficiency

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Brigitte Kazzi1, David Lederer2,3, Emilio Arteaga-Solis4

  • 1College of Physicians and Surgeons, Columbia University, USA.

Respiratory Medicine Case Reports
|August 11, 2018
PubMed

Insights

This study details a novel mutation in surfactant protein C (SP-C) causing recurrent diffuse lung disease. Early hydroxychloroquine and steroid treatment showed promise, but symptoms returned in adulthood, highlighting the need for long-term outcome data.

Area of Science:

  • Pulmonology
  • Genetics
  • Cell Biology

Background:

  • Surfactant protein C (SP-C) deficiency is a rare genetic disorder causing diffuse lung disease, typically presenting in infancy with variable severity.
  • Alveolar type II cells, crucial for lung repair, are injured by mutated SP-C accumulation, impairing the replenishment of alveolar type I cells.

Observation:

  • A patient with diffuse lung disease, initially treated in infancy, presented with recurrent respiratory symptoms in young adulthood.
  • Exome sequencing revealed a novel de novo SFTPC mutation (c.397A>C p.S133R) in the patient.

Findings:

  • The identified SFTPC mutation leads to the accumulation of mutated SP-C.
  • Accumulated mutated SP-C causes injury to alveolar type II cells, impairing lung repair mechanisms.
  • This cellular mechanism may explain the recurrence of symptoms in young adulthood following lung injury.

Implications:

  • This case highlights the potential for diffuse lung disease due to SFTPC mutations to manifest or recur in adulthood.
  • The findings suggest a need for long-term monitoring of patients with SP-C deficiency.
  • Further research is needed to understand the long-term efficacy of treatments like hydroxychloroquine for mutated SP-C accumulation.

Keywords:
Childhood diffuse lung diseaseHydroxychloroquineSurfactant protein C deficiency

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