Coukos Alexander, Daccord Cécile, Lazor Romain, Blum Sabine, Naveiras Olaia, Unger Sheila, Vionnet Julien, Gaide Olivier, Koutsokera Angela, Moschouri Eleni, Sempoux Christine, Good Jean-Marc, Moradpour Darius, Baerlocher Gabriela M, Fraga Montserrat
Service de gastroentérologie et d'hépatologie, Centre hospitalier universitaire vaudois et Université de Lausanne, 1011 Lausanne.
Service de pneumologie, Centre hospitalier universitaire vaudois et Université de Lausanne, 1011 Lausanne.
Rev Med Suisse. 2022 Aug 31;18(793):1606-1613. doi: 10.53738/REVMED.2022.18.793.1606.
Short telomere syndrome (STS) is a group of rare, often underrecognized, diseases caused by defects in telomere-maintenance genes, leading to abnormal telomere shortening and associated with diverse multi-organ manifestations. In pediatric patients, STS typically presents with mucocutaneous or gastrointestinal lesions, bone marrow failure and neoplasia. In adulthood, aplastic bone marrow disease, liver disease and pulmonary fibrosis are classic clinical manifestations. At present, medical treatment options for STS remain limited. Danazol, a synthetic androgenic hormone, can slow down telomere shortening and thus limit the progression of the disease. Finally, hematopoietic, hepatic and pulmonary transplantation, sometimes combined, may be discussed in a multidisciplinary setting in certain situations.
短端粒综合征（STS）是一组罕见且常未被充分认识的疾病，由端粒维持基因缺陷引起，导致端粒异常缩短，并伴有多种多器官表现。在儿科患者中，STS通常表现为皮肤黏膜或胃肠道病变、骨髓衰竭和肿瘤形成。在成人中，再生障碍性骨髓疾病、肝脏疾病和肺纤维化是典型的临床表现。目前，STS的医学治疗选择仍然有限。达那唑，一种合成雄激素，可减缓端粒缩短，从而限制疾病进展。最后，在某些情况下，可能会在多学科环境中讨论造血、肝脏和肺移植，有时会联合进行这些移植。
