Extrahematopoietic manifestations of the short telomere syndromes.
Hematology Am Soc Hematol Educ Program
; 2020(1): 115-122, 2020 12 04.
Article
em En
| MEDLINE
| ID: mdl-33275732
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Telômero
/
Transtornos do Crescimento
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Hipercalcemia
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Doenças Metabólicas
/
Nefrocalcinose
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Animals
/
Female
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Humans
/
Middle aged
Idioma:
En
Revista:
Hematology Am Soc Hematol Educ Program
Ano de publicação:
2020
Tipo de documento:
Article