Surfactant Protein C Deficiency in a Puerto Rican Adolescent With a Rare SFTPC Genetic Variant.

Surfactant protein C (SP-C) is a hydrophobic lipoprotein necessary for lowering alveolar surface tension and lung defense mechanisms. Defects in its function due to genetic mutations in the gene have been increasingly identified in patients presenting with childhood interstitial lung disease. mutations are inherited in an autosomal dominant pattern with reduced penetration and variable expressivity, although mutations have also been documented.