Syndromic genetic causes of pulmonary fibrosis.
Journal
Current opinion in pulmonary medicine
ISSN: 1531-6971
Titre abrégé: Curr Opin Pulm Med
Pays: United States
ID NLM: 9503765
Informations de publication
Date de publication:
20 Jun 2024
20 Jun 2024
Historique:
medline:
19
6
2024
pubmed:
19
6
2024
entrez:
19
6
2024
Statut:
aheadofprint
Résumé
The identification of extra-pulmonary symptoms plays a crucial role in diagnosing interstitial lung disease (ILD). These symptoms not only indicate autoimmune diseases but also hint at potential genetic disorders, suggesting a potential overlap between genetic and autoimmune origins. Genetic factors contributing to ILD are predominantly associated with telomere (TRG) and surfactant-related genes. While surfactant-related gene mutations typically manifest with pulmonary involvement alone, TRG mutations were initially linked to syndromic forms of pulmonary fibrosis, known as telomeropathies, which may involve hematological and hepatic manifestations with variable penetrance. Recognizing extra-pulmonary signs indicative of telomeropathy should prompt the analysis of TRG mutations, the most common genetic cause of familial pulmonary fibrosis. Additionally, various genetic diseases causing ILD, such as alveolar proteinosis, alveolar hemorrhage, or unclassifiable pulmonary fibrosis, often present as part of syndromes that include hepatic, hematological, or skin disorders. This review explores the main genetic conditions identified over the past two decades.
Identifiants
pubmed: 38896087
doi: 10.1097/MCP.0000000000001088
pii: 00063198-990000000-00168
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.
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