Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.

Anusha Vittal,Marena R Niewisch,Sonia Bhala,Pujitha Kudaravalli,Farial Rahman,Julian Hercun,David E Kleiner,Sharon A Savage,Christopher Koh,Theo Heller,Neelam Giri

Hepatology (Baltimore, Md.)（2023）

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摘要

Our experience shows a high prevalence of cholestatic pattern of liver abnormality with progression to portal hypertension in patients with DC/TBD. Presence of pulmonary and/or vascular disease in patients with recessive or TINF2 DC were important predictors of liver disease progression suggesting the need for increased vigilance and monitoring for complications in these patients.

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