{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:29:14Z","timestamp":1790418554900,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,1,3]],"date-time":"2022-01-03T00:00:00Z","timestamp":1641168000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004337","name":"Roche","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004337","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010466","name":"Chancellerie des Universit\u00e9s de Paris","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010466","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012019","name":"Fondation du Souffle","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012019","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Respirology"],"published-print":{"date-parts":[[2022,3]]},"abstract":"Abstract<\/jats:title>\n \n Background and objective<\/jats:title>\n \n Poly(A)\u2010specific ribonuclease (\n PARN<\/jats:italic>\n ) mutations have been associated with familial pulmonary fibrosis. This study aims to describe the phenotype of patients with interstitial lung disease (ILD) and heterozygous\n PARN<\/jats:italic>\n mutations.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n We performed a retrospective, observational, non\u2010interventional study of patients with an ILD diagnosis and a pathogenic heterozygous\n PARN<\/jats:italic>\n mutation followed up in a centre of the OrphaLung network.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n We included 31 patients (29 from 16 kindreds and two sporadic patients). The median age at ILD diagnosis was 59\u2009years (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 (\n n<\/jats:italic>\n \u00a0=\u00a012, 39%). Haematological abnormalities were identified in three patients and liver disease in two. In total, 21 patients received a specific treatment for ILD: steroids (\n n<\/jats:italic>\n \u00a0=\u00a013), antifibrotic agents (\n n<\/jats:italic>\n \u00a0=\u00a011), immunosuppressants (\n n<\/jats:italic>\n \u00a0=\u00a05) and\n N<\/jats:italic>\n \u2010acetyl cysteine (\n n<\/jats:italic>\n \u00a0=\u00a02). The median forced vital capacity decline for the whole sample was 256\u2009ml\/year (range \u2212363 to \u2212148). After a median follow\u2010up of 32\u2009months (range 18 to 66), 10 patients had died and six had undergone lung transplantation. The median transplantation\u2010free survival was 54\u2009months (95% CI 29 to \u221e). Extra\u2010pulmonary features were less frequent with\n PARN<\/jats:italic>\n mutation than telomerase reverse transcriptase (\n TERT<\/jats:italic>\n ) or telomerase RNA component (\n TERC<\/jats:italic>\n ) mutation.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n IPF is common among individuals with\n PARN<\/jats:italic>\n mutation, but other ILD subtypes may be observed.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/resp.14195","type":"journal-article","created":{"date-parts":[[2022,1,3]],"date-time":"2022-01-03T23:23:40Z","timestamp":1641252220000},"page":"226-235","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Interstitial lung diseases associated with mutations of poly(A)\u2010specific ribonuclease: A multicentre retrospective study"],"prefix":"10.1111","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3429-9605","authenticated-orcid":false,"given":"Quentin","family":"Philippot","sequence":"first","affiliation":[{"name":"Service de Pneumologie A H\u00f4pital Bichat, APHP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Kannengiesser","sequence":"additional","affiliation":[{"name":"INSERM, Unit\u00e9 1152 Universit\u00e9 de Paris Paris France"},{"name":"Laboratoire de G\u00e9n\u00e9tique H\u00f4pital Bichat, APHP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie Pierre","family":"Debray","sequence":"additional","affiliation":[{"name":"INSERM, Unit\u00e9 1152 Universit\u00e9 de Paris Paris France"},{"name":"Service de Radiologie H\u00f4pital Bichat, APHP Paris 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