Article
Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.
The European respiratory journal - 1 Jul 2015
Kröner Carolin, Reu Simone, Teusch Veronika, Schams Andrea, Grimmelt Ann-Christin, Barker Michael, Brand Joerg, Gappa Monika, Kitz Richard, Kramer Boris W, Lange Lars, Lau Susanne, Pfannenstiel Claus, Proesmans Marijke, Seidenberg Jürgen, Sismanlar Tugba, Aslan Ayse Tana, Werner Claudius, Zielen Stefan, Zarbock Ralf, Brasch Frank, Lohse Peter, Griese Matthias
Abstract excerpt
Patients with interstitial lung disease due to surfactant protein C (SFTPC) mutations are rare and not well characterised. We report on all subjects collected over a 15-year period in the kids-lung register with interstitial lung disease and a proven SFTPC mutation. We analysed clinical courses, interventions and outcomes, as well as histopathological and radiological interrelations. 17 patients (seven male) were...
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