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Philippot, Quentin; Kannengiesser, Caroline; Debray, Marie Pierre; Gauvain, Clément; Ba, Ibrahima; Vieri, Margherita; Gondouin, Anne; Naccache, Jean‐Marc; Reynaud‐Gaubert, Martine; Uzunhan, Yurdagul; Bondue, Benjamin; Israël‐Biet, Dominique; Dieudé, Philippe; Fourrage, Cécile; Lainey, Elodie; Manali, Effrosyne; Papiris, Spyros; Wemeau, Lidwine; Hirschi, Sandrine; Mal, Hervé; Nunes, Hilario; Schlemmer, Frédéric; Blanchard, Elodie; Beier, Fabian; [...]

Interstitial lung diseases associated with mutations of poly(A)‐specific ribonuclease: A multicentre retrospective study

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  • Medientyp: E-Artikel
  • Titel: Interstitial lung diseases associated with mutations of poly(A)‐specific ribonuclease: A multicentre retrospective study
  • Beteiligte: Philippot, Quentin; Kannengiesser, Caroline; Debray, Marie Pierre; Gauvain, Clément; Ba, Ibrahima; Vieri, Margherita; Gondouin, Anne; Naccache, Jean‐Marc; Reynaud‐Gaubert, Martine; Uzunhan, Yurdagul; Bondue, Benjamin; Israël‐Biet, Dominique; Dieudé, Philippe; Fourrage, Cécile; Lainey, Elodie; Manali, Effrosyne; Papiris, Spyros; Wemeau, Lidwine; Hirschi, Sandrine; Mal, Hervé; Nunes, Hilario; Schlemmer, Frédéric; Blanchard, Elodie; Beier, Fabian; [...]
  • Erschienen: Wiley, 2022
  • Erschienen in: Respirology
  • Sprache: Englisch
  • DOI: 10.1111/resp.14195
  • ISSN: 1440-1843; 1323-7799
  • Schlagwörter: Pulmonary and Respiratory Medicine
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:sec><jats:title>Background and objective</jats:title><jats:p>Poly(A)‐specific ribonuclease (<jats:italic>PARN</jats:italic>) mutations have been associated with familial pulmonary fibrosis. This study aims to describe the phenotype of patients with interstitial lung disease (ILD) and heterozygous <jats:italic>PARN</jats:italic> mutations.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>We performed a retrospective, observational, non‐interventional study of patients with an ILD diagnosis and a pathogenic heterozygous <jats:italic>PARN</jats:italic> mutation followed up in a centre of the OrphaLung network.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>We included 31 patients (29 from 16 kindreds and two sporadic patients). The median age at ILD diagnosis was 59 years (range 54 to 63). In total, 23 (74%) patients had a smoking history and/or fibrogenic exposure. The pulmonary phenotypes were heterogenous, but the most frequent diagnosis was idiopathic pulmonary fibrosis (<jats:italic>n</jats:italic> = 12, 39%). Haematological abnormalities were identified in three patients and liver disease in two. In total, 21 patients received a specific treatment for ILD: steroids (<jats:italic>n</jats:italic> = 13), antifibrotic agents (<jats:italic>n</jats:italic> = 11), immunosuppressants (<jats:italic>n</jats:italic> = 5) and <jats:italic>N</jats:italic>‐acetyl cysteine (<jats:italic>n</jats:italic> = 2). The median forced vital capacity decline for the whole sample was 256 ml/year (range −363 to −148). After a median follow‐up of 32 months (range 18 to 66), 10 patients had died and six had undergone lung transplantation. The median transplantation‐free survival was 54 months (95% CI 29 to ∞). Extra‐pulmonary features were less frequent with <jats:italic>PARN</jats:italic> mutation than telomerase reverse transcriptase (<jats:italic>TERT</jats:italic>) or telomerase RNA component (<jats:italic>TERC</jats:italic>) mutation.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>IPF is common among individuals with <jats:italic>PARN</jats:italic> mutation, but other ILD subtypes may be observed.</jats:p></jats:sec>