Extrahematopoietic manifestations of the short telomere syndromes.
| Autor: | Schratz KE; Department of Oncology and Telomere Center at Johns Hopkins, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD. |
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| Jazyk: | angličtina |
| Zdroj: | Hematology. American Society of Hematology. Education Program [Hematology Am Soc Hematol Educ Program] 2020 Dec 04; Vol. 2020 (1), pp. 115-122. |
| DOI: | 10.1182/hematology.2020000170 |
| Abstrakt: | The short telomere syndromes encompass a spectrum of clinical manifestations that present from infancy to late adulthood. They are caused by mutations in telomerase and other telomere maintenance genes and have a predominantly degenerative phenotype characterized by organ failure across multiple systems. They are collectively one of the most common inherited bone marrow failure syndromes; however, their most prevalent presentations are extrahematopoietic. This review focuses on these common nonhematologic complications, including pulmonary fibrosis, liver pathology, and immunodeficiency. The short telomere syndrome diagnosis informs clinical care, especially in guiding diagnostic evaluations as well as in the solid organ transplant setting. Early recognition allows an individualized approach to screening and management. This review illustrates a myriad of extrahematopoietic presentations of short telomere syndromes and how they impact clinical decisions. Competing Interests: Conflict-of-interest disclosure: The author declares no competing financial interests. (© 2020 by The American Society of Hematology.) |
| Databáze: | MEDLINE |
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