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- W2016354485 abstract "To the Editors: We read with great interest the report by Brasch et al . 1 on a case of interstitial lung disease (ILD) due to a de novo heterozygous missense mutation in the surfactant protein-C gene (SFTPC), which resulted in the substitution of threonine for isoleucine in codon 73 of the propeptide of the surfactant protein (SP)-C proprotein (I73T). Histological findings were consistent with nonspecific interstitial pneumonia (NSIP) and pulmonary alveolar proteinosis (PAP) features. Therapy included whole-lung lavages and anti-inflammatory drugs, and the child is still alive.The natural history of lung disease associated with SP-C mutations is poorly characterised, with unpredictable short- and long-term outcomes. In order to emphasise the phenotypic variability of SFTPC mutations, we now report a child with fatal lung disease due to the SP-C I73T mutation. The child was a full-term male, born to unrelated parents from an uneventful twin dizygotic pregnancy. At 3 months, he developed episodes of asthmatic bronchitis. At 9 months, he was admitted to the …" @default.
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- W2016354485 date "2004-12-01" @default.
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- W2016354485 title "Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation" @default.
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- W2016354485 doi "https://doi.org/10.1183/09031936.04.00092304" @default.
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