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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

Genotype alone does not predict the clinical course ofSFTPCdeficiency in paediatric patients

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  • Medientyp: E-Artikel
  • Titel: Genotype alone does not predict the clinical course ofSFTPCdeficiency in paediatric patients
  • Beteiligte: 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
  • Erschienen: European Respiratory Society (ERS), 2015
  • Erschienen in: European Respiratory Journal
  • Sprache: Englisch
  • DOI: 10.1183/09031936.00129414
  • ISSN: 0903-1936; 1399-3003
  • Schlagwörter: Pulmonary and Respiratory Medicine
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:p>Patients with interstitial lung disease due to surfactant protein C (<jats:italic>SFTPC</jats:italic>) mutations are rare and not well characterised.</jats:p><jats:p>We report on all subjects collected over a 15-year period in the kids-lung register with interstitial lung disease and a proven<jats:italic>SFTPC</jats:italic>mutation. We analysed clinical courses, interventions and outcomes, as well as histopathological and radiological interrelations.</jats:p><jats:p>17 patients (seven male) were followed over a median of 3 years (range 0.3–19). All patients were heterozygous carriers of autosomal dominant<jats:italic>SFTPC</jats:italic>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.</jats:p><jats:p>Prospective studies with randomised interventions are urgently needed and can best be performed in the framework of international registers.</jats:p>
  • Zugangsstatus: Freier Zugang