Jul 27, 2018

Evaluation and Management of Hematopoietic Failure in Dyskeratosis Congenita

Hematology/oncology Clinics of North America
Suneet Agarwal

Abstract

Dyskeratosis congenita (DC) is a rare, inherited bone marrow failure (BMF) syndrome characterized by variable manifestations and ages of onset, and predisposition to cancer. DC is one of a spectrum of diseases caused by mutations in genes regulating telomere maintenance, collectively referred to as telomere biology disorders (TBDs). Hematologic disease is common in children with DC/TBD. Timely diagnosis of underlying TBD in patients with BMF affects treatment and has been facilitated by increased awareness and availability of diagnostic tests in recent years. This article summarizes the pathophysiology, evaluation, and management of hematopoietic failure in patients with DC and other TBDs.

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Mentioned in this Paper

Genes
Telomere Recombination
Awareness
Bone Marrow
Etiology
Evaluation
Disease Management
Pancytopenia
Physiopathological
Diagnostic Procedure

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