AI Article Synopsis
- The identification of extra-pulmonary symptoms is vital for diagnosing interstitial lung disease (ILD), as these symptoms can indicate both autoimmune and genetic disorders.
- Recent findings show that genetic mutations related to telomeres and surfactants are key contributors to ILD, with telomere mutations being linked to syndromic pulmonary fibrosis and various other organ manifestations.
- The review highlights the importance of recognizing signs of telomeropathy to facilitate the analysis of genetic mutations, especially in familial cases of pulmonary fibrosis and other related syndromic diseases.
Article Abstract
Purpose Of Review: 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.
Recent Findings: 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.
Summary: This review explores the main genetic conditions identified over the past two decades.
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| http://dx.doi.org/10.1097/MCP.0000000000001088 | DOI Listing |
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