Patients with mutations in surfactant-processing genes, such as surfactant protein C (<i>SFTPC</i>), surfactant protein A1 and A2 (<i>SFTPA1</i> and <i>A2</i>), ATP binding cassette A3 (<i>ABCA3</i>) and Hermansky-Pudlak syndrome (<i>HPS1</i>, <i>2</i> and <i>4</i>), develop progressive pulmonary fibrosis, often culminating in fatal respiratory insufficiency.
We report a novel mutation in SFTPC [c.435G->A, p.(Gln145)] that was associated with onset of symptoms in early infancy, progressive respiratory failure with need for prolonged mechanical ventilatory support, and eventual lung transplant at 1 year of age.
SFTPC (surfactant protein C) mutations resulting in SP-C deficiency causing ongoing respiratory failure in the neonatal period represent a rare entity.
Mice expressing the potent chimeric Ang1 protein COMP-Ang1 in surfactant protein C (SPC)-positive lung epithelial cells, showed 50% lethality at birth due to respiratory failure.
Recessive loss of function mutations in surfactant protein-B (SP-B) gene lead to respiratory failure that is lethal in the newborn period while single allelic mutations in the surfactant protein-C (SP-C) gene cause interstitial lung disease of varying severity and age of onset.
A 38-day-old male infant with persistent pulmonary hypertension and respiratory failure since birth was found to have a complete absence of surfactant protein B (SP-B) along with an aberrant form of SP-C in his tracheal aspirate fluid, findings consistent with the diagnosis of hereditary SP-B deficiency.