A Young Patient With Pancytopenia and Cirrhosis: Unraveling a Telomere Biology Disorder
Telomere biology disorders represent a rare spectrum of disease caused by genetic defects of telomere maintenance with multisystem involvement, most often related to organ failure and aging. Ranging in severity, telomere biology disorders can appear in the absence of known risk factors. We present a...
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| Format: | Article |
| Language: | English |
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American College of Physicians
2025-06-01
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| Series: | Annals of Internal Medicine: Clinical Cases |
| Online Access: | https://www.acpjournals.org/doi/10.7326/aimcc.2025.0050 |
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| _version_ | 1850131685443633152 |
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| author | Jacob R. Lipovac Lucy Z. Shi |
| author_facet | Jacob R. Lipovac Lucy Z. Shi |
| author_sort | Jacob R. Lipovac |
| collection | DOAJ |
| description | Telomere biology disorders represent a rare spectrum of disease caused by genetic defects of telomere maintenance with multisystem involvement, most often related to organ failure and aging. Ranging in severity, telomere biology disorders can appear in the absence of known risk factors. We present a young patient who developed rapid onset of bone marrow failure and cirrhosis, ultimately found to be due to an underlying disorder of telomere biology with mutations within the PARN and TERT genes. |
| format | Article |
| id | doaj-art-14f1aed8a8fa41dc88d7fe5b4c84cde3 |
| institution | OA Journals |
| issn | 2767-7664 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | American College of Physicians |
| record_format | Article |
| series | Annals of Internal Medicine: Clinical Cases |
| spelling | doaj-art-14f1aed8a8fa41dc88d7fe5b4c84cde32025-08-20T02:32:22ZengAmerican College of PhysiciansAnnals of Internal Medicine: Clinical Cases2767-76642025-06-014610.7326/aimcc.2025.0050A Young Patient With Pancytopenia and Cirrhosis: Unraveling a Telomere Biology DisorderJacob R. Lipovac0Lucy Z. Shi11University of California Davis School of Medicine, Sacramento, California2Department of Internal Medicine, University of California Davis, Sacramento, CaliforniaTelomere biology disorders represent a rare spectrum of disease caused by genetic defects of telomere maintenance with multisystem involvement, most often related to organ failure and aging. Ranging in severity, telomere biology disorders can appear in the absence of known risk factors. We present a young patient who developed rapid onset of bone marrow failure and cirrhosis, ultimately found to be due to an underlying disorder of telomere biology with mutations within the PARN and TERT genes.https://www.acpjournals.org/doi/10.7326/aimcc.2025.0050 |
| spellingShingle | Jacob R. Lipovac Lucy Z. Shi A Young Patient With Pancytopenia and Cirrhosis: Unraveling a Telomere Biology Disorder Annals of Internal Medicine: Clinical Cases |
| title | A Young Patient With Pancytopenia and Cirrhosis: Unraveling a Telomere Biology Disorder |
| title_full | A Young Patient With Pancytopenia and Cirrhosis: Unraveling a Telomere Biology Disorder |
| title_fullStr | A Young Patient With Pancytopenia and Cirrhosis: Unraveling a Telomere Biology Disorder |
| title_full_unstemmed | A Young Patient With Pancytopenia and Cirrhosis: Unraveling a Telomere Biology Disorder |
| title_short | A Young Patient With Pancytopenia and Cirrhosis: Unraveling a Telomere Biology Disorder |
| title_sort | young patient with pancytopenia and cirrhosis unraveling a telomere biology disorder |
| url | https://www.acpjournals.org/doi/10.7326/aimcc.2025.0050 |
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