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Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients

Carolin Kröner1, Simone Reu2, Veronika Teusch3

  • 1Department of Pediatric Pneumology, Hauner Children's Hospital, Ludwig-Maximilians University, Comprehensive Pneumology Center Munich (CPC-M), German Center for Lung Research (DZL), Munich, Germany.

The European Respiratory Journal
|February 7, 2015
PubMed

Insights

Interstitial lung disease (ILD) in children with surfactant protein C (SFTPC) mutations is rare. This study characterized 17 patients, finding variable outcomes and treatment responses, highlighting the need for research registries.

Area of Science:

  • Pediatric Pulmonology
  • Rare Genetic Diseases
  • Interstitial Lung Disease

Background:

  • Interstitial lung disease (ILD) associated with surfactant protein C (SFTPC) mutations is uncommon and poorly understood in pediatric populations.
  • Characterizing the clinical spectrum, interventions, and outcomes is crucial for improving patient management.

Purpose of the Study:

  • To analyze the clinical course, interventions, and outcomes of pediatric patients with ILD and SFTPC mutations.
  • To investigate the relationship between histopathology, radiology, and clinical presentation in these patients.
  • To identify novel SFTPC mutations and their clinical significance.

Main Methods:

  • Retrospective analysis of 17 pediatric patients with ILD and confirmed SFTPC mutations from a 15-year registry.
  • Evaluation of clinical data, including disease progression, interventions, and outcomes.
  • Correlation of radiological and histopathological findings with clinical data and genotype.

Main Results:

  • Seventeen patients (7 male) with heterozygous autosomal dominant SFTPC mutations were followed for a median of 3 years.
  • Three novel SFTPC mutations (p.L101P, p.E191K, p.E191*) were identified.
  • Patients with mutations in the BRICHOS domain exhibited earlier disease onset. Clinical outcomes varied, with 1 patient healthy, 6 'sick-better', 7 'sick-same', and 3 'sick-worse'. Radiological findings progressed from ground-glass opacities to fibrosis and cysts with age. Empiric treatments showed variable efficacy, even in patients with identical genotypes.

Conclusions:

  • Pediatric ILD due to SFTPC mutations presents with diverse clinical courses and variable responses to treatment.
  • Early presentation is associated with mutations in the BRICHOS domain.
  • International collaborative efforts and prospective, randomized studies are essential for advancing the understanding and management of this rare condition.

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