Title:Genetic Disorders of Surfactant Deficiency and Neonatal Lung Disease
Volume: 15
Issue: 3
Author(s): Maria Papale, Giuseppe Fabio Parisi*, Amelia Licari, Raffaella Nenna and Salvatore Leonardi
Affiliation:
- Department of Clinical and Experimental Medicine, University of Catania, Catania,Italy
Keywords:
ABCA3, genetics, granulocyte macrophage colony-stimulating factor (GM-CSF), neonatal lung disease, pediatric
interstitial lung disease, surfactant proteins C and B, surfactant proteins.
Abstract: Pulmonary surfactant is a heterogeneous combination of lipids and proteins, which
prevents alveolar collapse at the end of expiration cycle by decreasing the alveolar surface tension at
the air-liquid interface. At birth, the expression of surfactant is very important for normal lung
function and it is strictly correlated to gestational age. The best known genetic mutations associated
with the onset of respiratory distress in preterm and full-term newborns and with interstitial lung
disease later in childhood are those involving the phospholipid transporter (ABCA3) or surfactant
proteins C and B (SP-C and SP-B) genes. In particular, mutations in the SP-B gene induce
respiratory distress in neonatal period, while alterations on gene encoding for SP-C are commonly
associated with diffuse lung disease in children or in adults. Both clinical phenotypes are present, if
genetic mutations interest even the phospholipid transporter ABCA3 ambiguity in the sentence.
Interstitial lung disease in children (chILD) is defined as a mixed category of mainly chronic and rare
respiratory disorders with increased mortality and morbidity. Although genetic alterations are mainly
responsible for the onset of these diseases, however, there are also other pathogenic factors that
contribute to increase the severity of clinical presentation. In this review, we analyze all clinical
features of these rare pulmonary diseases in neonatal and in pediatric age.
