Familial pulmonary fibrosis

Borie, Raphaël; Kannengiesser, Caroline; Nathan, Nadia; Tabèze, L.; Pradère, Pauline; Crestani, Bruno

doi:10.1016/j.rmr.2014.07.017

Cited by 41 publications

(44 citation statements)

References 105 publications

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“…In addition, even in IPF patients older than 60 years, the age group at which most of them are diagnosed, the presence of the identified blood or immunological abnormalities may increase suspicion of an impact of telomere shortening on outcome. Family aggregation is the most robust independent predictive factor for telomere shortening . However, another strong predictive factor evidenced by our results is age, in accordance with the recent data from Newton et al .…”

Section: Discussionsupporting

confidence: 93%

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Predictive factors and prognostic effect of telomere shortening in pulmonary fibrosis

et al. 2018

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Background and objective: The abnormal shortening of telomeres is a mechanism linking ageing to idiopathic pulmonary fibrosis (IPF) that could be useful in the clinical setting. The objective of this study was to identify the IPF patients with higher risk for telomere shortening and to investigate the outcome implications. Methods: Consecutive Spanish patients were included at diagnosis and followed up for 3 years. DNA blood samples from a Mexican cohort were used to validate the results found in Spanish sporadic IPF. Prior to treatment, telomere length was measured through quantitative polymerase chain reaction (qPCR) and Southern blot. Outcome was assessed according to mortality or need for lung transplantation. A multivariate regression logistic model was used for statistical analysis. Results: Family aggregation, age of <60 years and the presence of non-specific immunological or haematological abnormalities were associated with a higher probability of telomere shortening. Overall, 66.6% of patients younger than 60 years with telomere shortening died or required lung transplantation, independent of functional impairment at diagnosis. By contrast, in patients older than 60 years with telomere shortening, the negative impact of telomere shortening in outcome was not significant. Conclusion: Our data indicate that young sporadic IPF patients (<60 years) with some non-specific immunological or haematological abnormalities had higher risk of telomere shortening, and furthermore, they presented a poorer prognosis.

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Section: Discussionsupporting

confidence: 93%

“…The main limitations of the present study are the small sample size of the subgroup of patients younger than 60 years (which reduces the statistical power) and the lack of other genetic analysis such as MUC5B or SP gene variants . Furthermore, the possible effect of environmental exposures on TL could only be analysed for tobacco.…”

Section: Discussionmentioning

confidence: 97%

Predictive factors and prognostic effect of telomere shortening in pulmonary fibrosis

et al. 2018

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“…In 2-20% of patients the disease runs in the family. If this is the case, the first symptoms can develop even before the age of 40 [21,35,36].…”

Section: Clinical Picturementioning

confidence: 99%

Guidelines of the Polish Respiratory Society for Diagnosis and Treatment of Idiopathic Pulmonary Fibrosis

Piotrowski

Bestry²,

Białas

et al. 2020

Advances in Respiratory Medicine

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“…Mutations in the SP-C gene (SFTPC) are associated with early-onset NSIP, desquamative interstitial pneumonia and PAP [111]. In adults, they are mostly associated with a usual interstitial pneumonia pattern, but NSIP, desquamative interstitial pneumonia or organising pneumonia may also be observed [112]. Abnormalities that severely reduce granulocyte-macrophage colony-stimulating factor receptor signalling, including loss of heterozygosity and a function-altering point mutation in CSF2RA and homozygous CSF2RB mutations, have been identified as the cause of hereditary PAP [115,116].…”

Section: Genetic Biomarkersmentioning

confidence: 99%

Personalised medicine in interstitial lung diseases

2018

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Interstitial lung diseases in general, and idiopathic pulmonary fibrosis in particular, are complex disorders with multiple pathogenetic pathways, various disease behaviour profiles and different responses to treatment, all facets that make personalised medicine a highly attractive concept. Personalised medicine is aimed at describing distinct disease subsets taking into account individual lifestyle, environmental exposures, genetic profiles and molecular pathways. The cornerstone of personalised medicine is the identification of biomarkers that can be used to inform diagnosis, prognosis and treatment stratification. At present, no data exist validating a personalised approach in individual diseases. However, the importance of the goal amply justifies the characterisation of genotype and pathway signatures with a view to refining prognostic evaluation and trial design, with the ultimate aim of selecting treatments according to profiles in individual patients.

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Familial pulmonary fibrosis

Cited by 41 publications

References 105 publications

Predictive factors and prognostic effect of telomere shortening in pulmonary fibrosis

Predictive factors and prognostic effect of telomere shortening in pulmonary fibrosis

Guidelines of the Polish Respiratory Society for Diagnosis and Treatment of Idiopathic Pulmonary Fibrosis

Personalised medicine in interstitial lung diseases

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