Abstract

Surfactant metabolism dysfunction is a condition where pulmonary surfactant is insufficient for adequate respiration.

Cause | SFTPB mutations

Most disease-causing mutations in SFTPB result in a complete lack of mature SP-B protein . Lung disease is inherited in an autosomal recessive manner, requiring mutations in both alleles. Surfactant produced by infants with SP-B deficiency is abnormal in composition and does not function normally in lowering surface tension.

Cause | SFTPC mutations

Familial cases of SP-C dysfunction are inherited in an autosomal dominant pattern, although the onset and severity of lung disease are highly variable, even within the same family.

Cause | ABCA3 mutations

Mutations in ABCA3 appear to be the most common cause of genetic surfactant dysfunction in humans. The mutations result in a loss of or reduced function of the ABCA3 protein, and are inherited in an autosomal recessive manner .