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Old and novel surfactant protein C (SP-C) mutations in children

Ann-Christin Grimmelt, Michael Barker, Frank Brasch, Monika Gappa, Matthias Kappler, Richard Kitz, Carolin Kroener, Susanne Lau, Elke Lorenz, Claus Pfannenstiel, Marijke Preosmans, Jan Ripper, Claudius Werner, Stefan Zielen, Matthias Griese
European Respiratory Journal 2011 38: p632; DOI:
Ann-Christin Grimmelt
1Department of Pediatrics, Dr. von Hauner Childrens Hospital, Munich, Germany
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Michael Barker
2Department of Pediatrics, Helios Children's Hospital, Berlin, Germany
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Frank Brasch
3Institute for Pathology, Clinic Bielefeld Mitte, Bielefeld, Germany
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Monika Gappa
4Department of Pediatrics, Marien-Hospital GmbH Wesel, Wesel, Germany
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Matthias Kappler
1Department of Pediatrics, Dr. von Hauner Childrens Hospital, Munich, Germany
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Richard Kitz
5Department of Pediatrics, Clementinen Children's Hospital, Frankfurt am Main, Germany
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Carolin Kroener
1Department of Pediatrics, Dr. von Hauner Childrens Hospital, Munich, Germany
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Susanne Lau
6Department of Pediatrics, Charite - Campus Virchow Clinic, Berlin, Germany
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Elke Lorenz
1Department of Pediatrics, Dr. von Hauner Childrens Hospital, Munich, Germany
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Claus Pfannenstiel
7Department of Pediatrics, University Clinic, Johann Wolfgang Goethe University, Frankfurt, Germany
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Marijke Preosmans
8Pediatrics, Praxis Laurensberg, Aachen, Germany
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Jan Ripper
1Department of Pediatrics, Dr. von Hauner Childrens Hospital, Munich, Germany
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Claudius Werner
9Department of Pediatrics, University Clinic Leuven, Leuven, Germany
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Stefan Zielen
10Department of Pediatrics, University Clinic Münster, Münster, Germany
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Matthias Griese
1Department of Pediatrics, Dr. von Hauner Childrens Hospital, Munich, Germany
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Abstract

Genetic variations of SP-C gene are known to cause interstitial lung disease. In previous studies 55 patients have been described focussing on the genetic abnormalities and clinical course.

Here we report the data of children with SP-C mutations collected between 1998 and 2010. Lung biopsy findings and previous radiological imaging studies were re-examined using up to date classifications.

All 11 children identified had heterozygous mutations in the SP-C gene, six of which carried I73T and five other mutations (H59R, G74V, C121F, E191X, A112T). Age at onset of symptoms ranged from birth to 11 years; however most presented with postnatal respiratory distress syndrome or later with tachypnea, cough and failure to thrive. Chest computer tomography showed a variety of different patterns including ground glass attenuation, mosaic pattern, lung fibrosis and cysts. Initial diagnosis was made by genetic testing alone in 6 of 11 cases and by lung biopsy in 5 patients. Histology pattern included non specific interstitial pneumonia and desquamative interstitial pneumonia, chronic pneumonitis of infancy, pulmonary alveolar proteinosis and end stage fibrosis. Average follow-up was 7.1 years (0.8-18.8), disease progression ameliorated in 6 and remained unchanged in 5 children. During infancy treatments given included corticosteroids and hydroxychloroquine with mixed results. Currently 2 children do not require medical treatment.

The manifestation of interstitial lung disease due to SP-C mutations is variable, however many children present during neonatal period and infancy. Intermediate term course seems favourable. Efficacy of empirical treatments urgently needs to be assessed in randomized trial.

  • © 2011 ERS
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Old and novel surfactant protein C (SP-C) mutations in children
Ann-Christin Grimmelt, Michael Barker, Frank Brasch, Monika Gappa, Matthias Kappler, Richard Kitz, Carolin Kroener, Susanne Lau, Elke Lorenz, Claus Pfannenstiel, Marijke Preosmans, Jan Ripper, Claudius Werner, Stefan Zielen, Matthias Griese
European Respiratory Journal Sep 2011, 38 (Suppl 55) p632;

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Old and novel surfactant protein C (SP-C) mutations in children
Ann-Christin Grimmelt, Michael Barker, Frank Brasch, Monika Gappa, Matthias Kappler, Richard Kitz, Carolin Kroener, Susanne Lau, Elke Lorenz, Claus Pfannenstiel, Marijke Preosmans, Jan Ripper, Claudius Werner, Stefan Zielen, Matthias Griese
European Respiratory Journal Sep 2011, 38 (Suppl 55) p632;
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