Surfactant protein C gene (SFTPC) mutation‐associated lung disease: High‐resolution computed tomography (HRCT) findings and its relation to histological analysis

Abstract

In children with SFTPC mutations, HRCT scan finding was highly correlated to the histological findings and, as such, represent a useful tool to identify patients that may require SFTPC gene sequencing.

Targeted Disruption of Ig-Hepta/Gpr116 Causes Emphysema-like Symptoms That Are Associated with Alveolar Macrophage Activation

“…These abnormalities are similar to those seen in patients and animal models with emphysema (21,39,40), but the underlying mechanism of pathogenesis has not been elucidated. Because AMs have been shown to play a pivotal role in the pathogenesis of emphysema, we determined and An extensive accumulation of the AMs occurs in the alveoli of Ig-Hepta Ϫ/Ϫ mice as early as 3 weeks of age and progressively increases thereafter (27,28).…”

“…Exposure of pulmonary surfactant to air pollution and oxidants results in peroxidation of surfactant lipids and oxidation of surfactant proteins, leading to inactivation of pulmonary surfactant, alveolar collapse, and impaired gas exchange (17)(18)(19). Genetic mutations in the surfactant protein (SP)-C gene is associated with interstitial lung disease, including emphysema (20,21). Deficiency of SP-C induces endoplasmic reticulum stress in the alveolar type II cells, which promotes apoptotic and proinflammatory signaling pathways (22).…”

An Official American Thoracic Society Clinical Practice Guideline: Classification, Evaluation, and Management of Childhood Interstitial Lung Disease in Infancy

“…The prevalence of mutations in SFTPC or ABCA3 are estimated from more than 20 case reports (169)(170)(171)(172) and case series (42,70,151,152,157,167,168,171,(173)(174)(175)(176)(177). Our confidence in the estimates is limited by the potential selection bias inherent in some of these studies, which could have biased the results toward a higher estimated prevalence.…”

“…The observations described here derive from two observational studies that found that CT scanning is more likely than CXR to accurately identify DLD in children (17,35), numerous case series that reported a strong correlation between histologic findings and the thin-section CT scan appearance in children with surfactant protein C mutation (42), neuroendocrine cell hyperplasia of infancy (NEHI) ( Figure 5) (20) and other DLDs (17,19,35), and two studies that demonstrated that CT scanning is superior to MRI in resolution and in identifying ground glass opacity, normal peripheral bronchi, and air trapping in patients with cystic fibrosis (43,44). Although cystic fibrosis is not a chILD disorder, resolution is an important determinant of image quality, and the findings of air trapping and ground glass opacity are key observations in chILD.…”

Management of suspected monogenic lung fibrosis in a specialised centre

“…Biallelic ABCA3 mutations and heterozygous SFTPC mutations in adults may have a similar clinical and radiological presentation [83,84]. The most frequent radiological pattern associates predominant diffuse ground-glass opacities, septal thickening and cysts of variable size with a preferential distribution in the upper lobes and in subpleural areas (figure 4) [85][86][87]. Differentiating emphysema from cysts is sometimes difficult, and SFTPC mutation must be evoked in a young patient presenting combined pulmonary fibrosis and emphysema [88].…”