PT - JOURNAL ARTICLE AU - Carolin Kröner AU - Simone Reu AU - Veronika Teusch AU - Andrea Schams AU - Ann-Christin Grimmelt AU - Michael Barker AU - Joerg Brand AU - Monika Gappa AU - Richard Kitz AU - Boris W. Kramer AU - Lars Lange AU - Susanne Lau AU - Claus Pfannenstiel AU - Marijke Proesmans AU - Jürgen Seidenberg AU - Tugba Sismanlar AU - Ayse Tana Aslan AU - Claudius Werner AU - Stefan Zielen AU - Ralf Zarbock AU - Frank Brasch AU - Peter Lohse AU - Matthias Griese TI - Genotype alone does not predict the clinical course of <em>SFTPC</em> deficiency in paediatric patients AID - 10.1183/09031936.00129414 DP - 2015 Jul 01 TA - European Respiratory Journal PG - 197--206 VI - 46 IP - 1 4099 - http://erj.ersjournals.com/content/46/1/197.short 4100 - http://erj.ersjournals.com/content/46/1/197.full SO - Eur Respir J2015 Jul 01; 46 AB - 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 followed over a median of 3 years (range 0.3–19). All patients were heterozygous carriers of autosomal dominant SFTPC mutations. Three mutations (p.L101P, p.E191 K and p.E191*) have not been described before in the context of surfactant protein C deficiency. Patients with alterations in the BRICHOS domain of the protein (amino acids 94–197) presented earlier. At follow-up, one patient was healthy (2 years), six patients were “sick-better” (2.8 years, range 0.8–19), seven patients were “sick-same” (6.5 years, 1.3–15.8) and three patients were “sick-worse” (0.3 years, 0.3–16.9). Radiological findings changed from ground-glass to increasing signs of fibrosis and cyst formation with increasing age. Empiric treatments had variable effects, also in patients with the same genotype.Prospective studies with randomised interventions are urgently needed and can best be performed in the framework of international registers.Genotype alone does not predict the clinical course of surfactant protein C deficiency in children and young adults http://ow.ly/GRhCc