| Autor: |
Samantha Chin‐Yun Kung, Olivia Dixon, Sarah Kentwell, Raja S. Vasireddy, Jonathan Rodgers, Yuming Ding, Tony Rahman, Caroline Tallis, Ian A. Yang, John A. Mackintosh |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Respirology Case Reports, Vol 11, Iss 8, Pp n/a-n/a (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2051-3380 |
| DOI: |
10.1002/rcr2.1182 |
| Popis: |
Abstract A 33‐year‐old man presented with acute dyspnoea and profound hypoxaemia, and had clubbing, greying of hair, orthodeoxia and fine inspiratory crackles. CT chest showed established pulmonary fibrosis in a usual interstitial pneumonia pattern. Additional investigations revealed a small patent foramen ovale, pancytopenia, and oesophageal varices and portal hypertensive gastropathy from liver cirrhosis. Telomere length testing demonstrated short telomeres (T, p.(Thr567Met)) and a variant of uncertain significance in PARN (c.1159G>A, p.(Gly387Arg)). Combined lung and liver transplantation was deemed not suitable due to frailty and severe hepatopulmonary syndrome, and he died 56 days after presentation. Early recognition of the short telomere syndrome is important, and its multi‐organ involvement poses challenges to management. Genetic screening may be important in younger patients with pulmonary fibrosis or in unexplained liver cirrhosis. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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