Survival of an infant with homozygous surfactant protein C (SFTPC) mutation

Pediatr Pulmonol. 2014 Mar;49(3):E112-5. doi: 10.1002/ppul.22976. Epub 2013 Dec 17.

Abstract

Lung diseases caused by surfactant protein C (SFTPC) mutations are inherited as autosomal traits with variable penetrance and severity or as sporadic disease caused by a de novo mutation on one allele. Here, we report the case of a child surviving with a homozygous surfactant protein C mutation after aggressive clinical management unlike his six siblings who died in infancy. This presentation raises the suspicion of an autosomal recessive inheritance that is discussed in this report.

Keywords: SFTPC; autosomal recessive; surfactant protein C deficiency.

Publication types

  • Case Reports

MeSH terms

  • Anti-Bacterial Agents / therapeutic use
  • Anti-Inflammatory Agents / therapeutic use
  • Azithromycin / therapeutic use
  • Consanguinity
  • Genes, Recessive
  • Homozygote*
  • Humans
  • Hydroxychloroquine / therapeutic use
  • Infant
  • Lung / diagnostic imaging*
  • Lung / pathology
  • Lung / ultrastructure
  • Male
  • Methylprednisolone / therapeutic use
  • Microscopy, Electron
  • Mutation, Missense / genetics
  • Oxygen Inhalation Therapy
  • Pedigree
  • Phenotype
  • Pulmonary Alveolar Proteinosis / diagnosis
  • Pulmonary Alveolar Proteinosis / genetics*
  • Pulmonary Surfactant-Associated Protein C / genetics*
  • Radiography
  • Respiration, Artificial
  • Respiratory Distress Syndrome / genetics*
  • Respiratory Distress Syndrome / therapy
  • Siblings
  • Treatment Outcome

Substances

  • Anti-Bacterial Agents
  • Anti-Inflammatory Agents
  • Pulmonary Surfactant-Associated Protein C
  • SFTPC protein, human
  • Hydroxychloroquine
  • Azithromycin
  • Methylprednisolone