Cirrhosis caused by RTEL1-Associated Telomeropathy
| Journal | Volume 89 - 2026 |
| Issue | Fasc.3 - Case reports |
| Author(s) | M. de Callataÿ 1, E. Timmery 2, B. Delire 1 |
| Full article |
 PAGES 493-494 VIEW FREE PDF |
| DOI | 10.51821/89.3.14768 |
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Affiliations: (1) Department of Hepato-gastroenterology, Cliniques Universitaires Saint-Luc, Brussels, Belgium
(2) Department of Gastroenterology, Clinique Notre-Dame de Grâce, Gosselies, Belgium |
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Telomere biology disorders (TBDs), or telomeropathies, are rare genetic conditions caused by defective telomere maintenance, leading to accelerated telomere shortening, premature cellular senescence, and multi-organ dysfunction(1,3). The clinical spectrum ranges from dyskeratosis congenita to pulmonary fibrosis, bone marrow failure (pancytopenia, leukemia, myelodysplasia), and cirrhosis(2,4). Overall, up to 40% of TBD patients present various hepatic manifestations such as cirrhosis (7%), nodular regenerative hyperplasia and steatohepatitis (5). Keywords: Telomere biology disorders, RTEL1, cirrhosis, Flow-FISH. |
| The authors declare that they have no conflict of interest. |
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© Acta Gastro-Enterologica Belgica. PMID 42872338 |