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Transient elastography in adult patients with cryptic dyskeratosis congenita reveals subclinical liver fibrosis: a retrospective analysis of the Aachen telomere biology disease registry.

Mareike TomettenMartin KirschnerSusanne IsfortMarie-Luise BerresTim H BrümmendorfFabian Beier
Published in: Orphanet journal of rare diseases (2021)
Subclinical chronic liver involvement is frequent in patients with adult-onset TBD. TE could have a valuable role in the routine work-up of patients with telomere disorders including DKC for early detection of patients at risk for liver function impairment.
Keyphrases
  • liver fibrosis
  • end stage renal disease
  • newly diagnosed
  • ejection fraction
  • peritoneal dialysis
  • clinical practice
  • cerebral ischemia