Telomere biology disorder presenting acutely with pulmonary fibrosis and hepatopulmonary syndrome in a young adult male.

Autor: Kung SC; Department of Thoracic Medicine The Prince Charles Hospital Brisbane Queensland Australia., Dixon O; Department of Thoracic Medicine The Prince Charles Hospital Brisbane Queensland Australia., Kentwell S; Department of Thoracic Medicine The Prince Charles Hospital Brisbane Queensland Australia., Vasireddy RS; Department of Haematology The Children's Hospital at Westmead, The Sydney Children's Hospitals Network Sydney New South Wales Australia., Rodgers J; Genetic Health Queensland Royal Brisbane and Women's Hospital Brisbane Queensland Australia.; Faculty of Medicine The University of Queensland Brisbane Queensland Australia., Ding Y; Gastroenterology and Hepatology The Prince Charles Hospital Brisbane Queensland Australia., Rahman T; Faculty of Medicine The University of Queensland Brisbane Queensland Australia.; Gastroenterology and Hepatology The Prince Charles Hospital Brisbane Queensland Australia., Tallis C; Department of Gastroenterology and Hepatology Princess Alexandra Hospital Brisbane Queensland Australia., Yang IA; Department of Thoracic Medicine The Prince Charles Hospital Brisbane Queensland Australia.; Faculty of Medicine The University of Queensland Brisbane Queensland Australia., Mackintosh JA; Department of Thoracic Medicine The Prince Charles Hospital Brisbane Queensland Australia.; Faculty of Medicine The University of Queensland Brisbane Queensland Australia.
Jazyk: angličtina
Zdroj: Respirology case reports [Respirol Case Rep] 2023 Jun 30; Vol. 11 (8), pp. e01182. Date of Electronic Publication: 2023 Jun 30 (Print Publication: 2023).
DOI: 10.1002/rcr2.1182
Abstrakt: 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 (<1st percentile), confirming the diagnosis of a telomere biology disorder. An interstitial lung disease gene panel identified a pathogenic variant in TERT (c.1700C>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.
Competing Interests: None declared.
(© 2023 The Authors. Respirology Case Reports published by John Wiley & Sons Australia, Ltd on behalf of The Asian Pacific Society of Respirology.)
Databáze: MEDLINE
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