端粒酶功能或端粒维护缺陷会导致基因组不稳定。端粒长度和/或损耗的改变是被称为端粒生物学疾病或端粒病的罕见疾病的主要特征。这些疾病的分子基础和评估端粒长度的尖端方法的最新进展增加了我们对这一主题的理解。即使同一家族的携带者也有多器官表现和不同表型的报道。在这种情况下，除了先天性角化不良之外，以前被认为是特发性的疾病（即肺纤维化、肝硬化）经常与潜在的端粒维持机制缺陷相关。此外，这些患者容易患上特定的癌症类型，并且在标准化疗方案中表现出异常的敏感性和毒性。当前的综述描述了儿科和成人患者端粒生物学疾病的多种临床表现、它们与致病变异的相关性，以及在管理过程中提高认识和改进多学科方法的注意事项。© 作者 2024。出版者牛津大学出版社代表研究生医学联谊会。版权所有。如需权限，请发送电子邮件至：journals.permissions@oup.com。

Defective telomerase function or telomere maintenance causes genomic instability. Alterations in telomere length and/or attrition are the primary features of rare diseases known as telomere biology disorders or telomeropathies. Recent advances in the molecular basis of these disorders and cutting-edge methods assessing telomere length have increased our understanding of this topic. Multiorgan manifestations and different phenotypes have been reported even in carriers within the same family. In this context, apart from dyskeratosis congenita, disorders formerly considered idiopathic (i.e. pulmonary fibrosis, liver cirrhosis) frequently correlate with underlying defective telomere maintenance mechanisms. Moreover, these patients are prone to developing specific cancer types and exhibit exceptional sensitivity and toxicity in standard chemotherapy regimens. The current review describes the diverse spectrum of clinical manifestations of telomere biology disorders in pediatric and adult patients, their correlation with pathogenic variants, and considerations during their management to increase awareness and improve a multidisciplinary approach.© The Author(s) 2024. Published by Oxford University Press on behalf of Fellowship of Postgraduate Medicine. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.