دورية أكاديمية
Monogenic gene variants in lung transplant recipients with usual interstitial pneumonia
| العنوان: | Monogenic gene variants in lung transplant recipients with usual interstitial pneumonia |
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| المؤلفون: | Christoffer Stark, Juha W. Koskenvuo, Antti Nykänen, Eija H. Seppälä, Samuel Myllykangas, Karl Lemström, Peter Raivio |
| المصدر: | ERJ Open Research, Vol 8, Iss 1 (2022) |
| بيانات النشر: | European Respiratory Society, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Medicine |
| مصطلحات موضوعية: | Medicine |
| الوصف: | Aim The prevalence of monogenic disease-causing gene variants in lung transplant recipients with idiopathic pulmonary fibrosis is not fully known. Their impact on clinical outcomes before and after transplantation requires more evidence. Patients and methods We retrospectively performed sequence analysis of genes associated with pulmonary fibrosis in a cohort of 23 patients with histologically confirmed usual interstitial pneumonia that had previously undergone double lung transplantation. We evaluated the impact of confirmed molecular diagnoses on disease progression, clinical outcomes and incidence of acute rejection or chronic lung allograft dysfunction after transplantation. Results 15 patients out of 23 (65%) had a variant in a gene associated with interstitial lung disease. 11 patients (48%) received a molecular diagnosis, of which nine involved genes for telomerase function. Five diagnostic variants were found in the gene for Telomerase reverse transcriptase. Two of these variants, p.(Asp684Gly) and p.(Arg774*), seemed to be enriched in Finnish lung transplant recipients. Disease progression and the incidence of acute rejection and chronic lung allograft dysfunction was similar between patients with telomere-related disease and the rest of the study population. The incidence of renal or bone marrow insufficiency or skin malignancies did not differ between the groups. Conclusion Genetic variants are common in lung transplant recipients with pulmonary fibrosis and are most often related to telomerase function. A molecular diagnosis for telomeropathy does not seem to impact disease progression or the risk of complications or allograft dysfunction after transplantation. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2312-0541 23120541 |
| Relation: | http://openres.ersjournals.com/content/8/1/00583-2021.full; https://doaj.org/toc/2312-0541 |
| DOI: | 10.1183/23120541.00583-2021 |
| URL الوصول: | https://doaj.org/article/1636d8a55b6544429c4981c3637dfa5a |
| رقم الأكسشن: | edsdoj.1636d8a55b6544429c4981c3637dfa5a |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 23120541 |
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| DOI: | 10.1183/23120541.00583-2021 |