Longitudinal clinical manifestations of Fanconi anemia: A systematized review.

Autor: Hoover A; Division of Blood and Marrow Transplantation & Cellular Therapy, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA. Electronic address: hoove231@umn.edu., Turcotte LM; Division of Hematology and Oncology, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Phelan R; Division of Hematology, Oncology, and Blood and Marrow Transplant, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA., Barbus C; Division of Endocrinology, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Rayannavar A; Division of Endocrinology, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Miller BS; Division of Endocrinology, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Reardon EE; Woodruff Health Sciences Center Library, Emory University, Atlanta, GA, USA., Theis-Mahon N; Health Sciences Library, University of Minnesota, Minneapolis, MN, USA., MacMillan ML; Division of Blood and Marrow Transplantation & Cellular Therapy, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
Jazyk: angličtina
Zdroj: Blood reviews [Blood Rev] 2024 Nov; Vol. 68, pp. 101225. Date of Electronic Publication: 2024 Aug 02.
DOI: 10.1016/j.blre.2024.101225
Abstrakt: Fanconi anemia (FA) is a rare and complex inherited genetic disorder characterized by impaired DNA repair mechanisms leading to genomic instability. Individuals with FA have increased susceptibility to congenital anomalies, progressive bone marrow failure, leukemia and malignant tumors, endocrinopathies and other medical issues. In recent decades, steadily improved approaches to hematopoietic cell transplantation (HCT), the only proven curative therapy for the hematologic manifestations of FA, have significantly increased the life expectancy of affected individuals, illuminating the need to understand the long-term consequences and multi-organ ramifications. Utilizing a systematized review approach with narrative synthesis of each primary issue and organ system, we shed light on the challenges and opportunities for optimizing the care and quality of life for individuals with FA and identify knowledge gaps informing future research directions.
Competing Interests: Declaration of competing interest None.
(Copyright © 2024. Published by Elsevier Ltd.)
Databáze: MEDLINE
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