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

ABSTRACT:

Background and aims

Dyskeratosis congenita (DC) and related telomere biology disorders (TBD) are characterized by very short telomeres and multisystem organ involvement including liver disease. Our study aimed to characterize baseline hepatic abnormalities in patients with DC/TBD and determine risk factors associated with liver disease progression.

Approach and results

A retrospective review was performed on a cohort of 58 patients (39 males) with DC/TBD who were prospectively evaluated at a single institute from 2002 to 2019. The median age at initial assessment was 18 (1.4-67.6) years, and median follow-up duration was 6 (1.4-8.2) years. Patients with autosomal or X-linked recessive inheritance and those with heterozygous TINF2 DC were significantly younger, predominantly

SUBMITTER: Vittal A 

PROVIDER: S-EPMC10733788 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature