Interstitial lung disease due to a defect in surfactant metabolism

Abstract

Recent research has led to recognition and classification of a new group of interstitial lung diseases that present with neonatal respiratory failure because of disorders of surfactant metabolism. One of these is due to mutations affecting the ATP-binding cassette protein subfamily A (ABCA), and the principle mutation has affected ABCA3. Patients with loss of function mutations on both ABCA3 alleles have diffuse lung disease due to surfactant dysfunction and many such mutations have been reported. Other mutations that affect surfactant metabolism involve surfactant protein B and surfactant protein C. In this issue of The Journal, Gower et al from Johns Hopkins University School of Medicine, the University of Cincinnati College of Medicine, and Soroka Medical Center in Beer Sheva, Israel, report 2 female siblings who have the phenotype of an ABCA3 mutation including undetectable ABCA3 protein by immunostaining of lung tissue samples and the characteristic electromicroscopic appearances, without any identified mutations, in the ABCA3 gene or its regulatory regiments. This report illustrates the point that there is still much more to be understood concerning the structure and function of the ABCA3 gene and protein. Article page 62 ▸ Fatal Familial Lung Disease Caused by ABCA3 Deficiency without Identified ABCA3 MutationsThe Journal of PediatricsVol. 157Issue 1PreviewTo test the hypothesis that some functionally significant variants in the gene encoding member A3 of the ATP Binding Cassette family (ABCA3) are not detected using exon-based sequencing approaches. Full-Text PDF