ReviewEuropean respiratory review : an official journal of the European Respiratory Society2017
Management of suspected monogenic lung fibrosis in a specialised centre.
Review in European respiratory review : an official journal of the European Respiratory Society, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Guideline
- Telomere dysfunction and mucociliary impairment drive idiopathic pulmonary fibrosis susceptibility: insights from a Sardinian whole-exome study.BMJ open respiratory research · 2026Article
- Geographical, institutional and workplace variability in genetic evaluation, screening practices, multidisciplinary care, and lung transplantation management for familial interstitial lung disease.BMC pulmonary medicine · 2026Article
- A syndromic framework for progressive pulmonary fibrosis.Respiratory research · 2026Review
- Cancer risk in patients with pulmonary fibrosis and a rare telomere related gene variant.Respiratory research · 2026Article
- Molecular Investigation in Early-Onset Interstitial Lung Disease: Results From 699 Unrelated Patients.Respirology (Carlton, Vic.) · 2026Article
- A novel RTEL1 nonsense variant in a case of familial pulmonary fibrosis: clinical description and genetic implications.BMC pulmonary medicine · 2025Article
- Article
- [Target organ the lungs: diversity of fibrotic pulmonary diseases].Innere Medizin (Heidelberg, Germany) · 2025Review
- The necessity of geneticist and pulmonologist collaboration in the treatment of monogenic interstitial lung diseases in adults.Breathe (Sheffield, England) · 2025Review
- Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis.Respirology (Carlton, Vic.) · 2025Article
- Updates in Diagnostic Tools for ILD.Journal of clinical medicine · 2025Review
- Insights into interstitial lung disease pathogenesis.Breathe (Sheffield, England) · 2025Review
- A non-resolving cough in a 41-year-old woman: a case of familial pulmonary fibrosis.Breathe (Sheffield, England) · 2025Article
- Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey.BMC pulmonary medicine · 2025Article
- Genetics and Genomics of Pulmonary Fibrosis: Charting the Molecular Landscape and Shaping Precision Medicine.American journal of respiratory and critical care medicine · 2024Review
- High risk of lung cancer in surfactant-related gene variant carriers.The European respiratory journal · 2024Article
- A new variant in theERJ open research · 2024Article
- Outcome of lung transplantation for adults with interstitial lung disease associated with genetic disorders of the surfactant system.ERJ open research · 2023Article
- KIF15 missense variant is associated with the early onset of idiopathic pulmonary fibrosis.Respiratory research · 2023Observational
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
At least 10% of patients with interstitial lung disease present monogenic lung fibrosis suspected on familial aggregation of pulmonary fibrosis, specific syndromes or early age of diagnosis. Approximately 25% of families have an identified mutation in genes mostly involved in telomere homeostasis, and more rarely in surfactant homeostasis.Beyond pathophysiological knowledge, detection of these mutations has practical consequence for patients. For instance, mutations involved in telomere homeostasis are associated with haematological complications after lung transplantation and may require adapted immunosuppression. Moreover, relatives may benefit from a clinical and genetic evaluation that should be specifically managed.The field of genetics of pulmonary fibrosis has made great progress in the last 10 years, raising specific problems that should be addressed by a specialised team.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.