Early‐life liver cirrhosis and variable clinical presentation in telomere disease

• Published in: Acta Paediatrica Vol. 111; no. 12; pp. 2416 - 2421
• Main Authors: Faingelernt, Yaniv, Nassar, Raouf, Ling, Galina, Kodman, Yona, Feuerstein, Tamar, Yerushalmi, Baruch
• Format: Journal Article
• Language: English
• Published: Norway Wiley Subscription Services, Inc 01.12.2022
• Subjects: bone marrow failure; Cell death; Child, Preschool; Children; Chromosomes; chronic recurrent multifocal osteomyelitis; Cirrhosis; Genotypes; Hepatocytes; hepatopulmonary syndrome; Humans; Liver cirrhosis; Liver Cirrhosis - genetics; Liver diseases; Mutation; Nucleotide sequence; Patients; Phenotype; Phenotypes; Senescence; Telomerase; Telomerase - genetics; Telomerase - metabolism; Telomere - genetics; telomere disease; Telomeres; bone marrow failure; chronic recurrent multifocal osteomyelitis; telomere disease; hepatopulmonary syndrome; liver cirrhosis

Aim Telomeres are DNA sequences of tandem TTAGGG repeats that protect chromosome ends from degradation and instability. Constitutional loss‐of‐function telomerase mutations result in rapid telomere shortening, premature senescence and cell death. Liver cirrhosis is rare and has only been reported in...