The diagnosis and treatment of dyskeratosis congenita: a review

被引：97

作者：

Soledad Fernandez Garcia, M. ^{[1
,2
]}

Teruya-Feldstein, Julie ^{[1
]}

机构：

[1] Mem Sloan Kettering Canc Ctr, Dept Pathol, New York, NY 10021 USA

[2] Hosp Univ Cent Asturias, Dept Pathol, Oviedo, Spain

来源：

JOURNAL OF BLOOD MEDICINE | 2014年 / 5卷

关键词：

dyskeratosis congenita; diagnosis; genetics; clinical; treatment;

D O I：

10.2147/JBM.S47437

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Dyskeratosis congenita (DC) is an inherited bone marrow failure (BMF) syndrome characterized by the classic triad of abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. However, patients usually develop BMF and are predisposed to cancer, with increased risk for squamous cell carcinoma and hematolymphoid neoplasms. DC is a disease of defective telomere maintenance and is heterogeneous at the genetic level. It can be inherited in X-linked, autosomal dominant, or autosomal recessive patterns. Mutations in at least ten telomere- and telomerase-associated genes have been described in DC. There are no targeted therapies for DC and patients usually die of BMF due to a deficient renewing capability of hematopoietic stem cells. Allogeneic hematopoietic stem cell transplantation is the only curative treatment for BMF.

引用

页码：157 / 167

页数：11

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