Article
A disorder of surfactant metabolism without identified genetic mutations.
Italian journal of pediatrics - 25 Nov 2015
Montella Silvia, Vece Timothy J, Langston Claire, Carrera Paola, Nogee Lawrence M, Hamvas Aaron, Manna Angelo, Cervasio Mariarosaria, Cervasio Mara, Santamaria Francesca
Abstract excerpt
BACKGROUND: Surfactant metabolism disorders may result in diffuse lung disease in children. CASE PRESENTATION: We report a 3-years-old boy with dry cough, progressive hypoxemia, dyspnea and bilateral ground glass opacities at chest high-resolution computed tomography (HRCT) who had no variants in genes encoding surfactant proteins or transcription factors. Lung histology strongly suggested an abnormality of...
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