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

Area of Science:

• Pulmonary Medicine
• Genetics
• Pediatric Critical Care

Background:

• Mutations in surfactant protein C (SFTPC) are linked to inherited lung diseases.
• These conditions typically exhibit autosomal dominant inheritance with variable expressivity or arise from de novo mutations.
• Previous cases often involve heterozygous mutations, leading to severe disease.

Observation:

• A pediatric case presented with a homozygous SFTPC mutation.
• The child received intensive clinical management.
• This contrasts with six deceased siblings who succumbed in infancy.

Findings:

• The patient with homozygous SFTPC mutation survived following aggressive medical intervention.
• This outcome is atypical for previously documented homozygous mutations.
• The survival challenges the typical understanding of SFTPC-related lung disease inheritance patterns.

Implications:

• This case suggests a potential for autosomal recessive inheritance of SFTPC-related lung disease.
• Aggressive clinical management may improve outcomes in severe genetic lung disorders.
• Further research is warranted to explore the genetic and clinical factors influencing SFTPC mutation severity and inheritance.