Clinical features of dyskeratosis congenita in mainland China: case reports and literature review

Dyskeratosis congenita (DC) is a rare-inherited bone marrow failure syndrome associated with multi-system disorder. To summarize the clinical features, epidemiology, and treatment of DC in mainland China, we retrospectively reviewed the medical records of two patients diagnosed with DC at our hospit...

Full description

Saved in:
Bibliographic Details
Published inInternational journal of hematology Vol. 109; no. 3; pp. 328 - 335
Main Authors Li, Fuxing, Li, Wei, Qiao, Xiaohong, Xie, Xiaotian
Format Journal Article
LanguageEnglish
Published Tokyo Springer Japan 01.03.2019
Springer Nature B.V
Subjects
Age
Androgens
Anemia
Aplastic anemia
Bone marrow
Case reports
Diagnosis
Dyskeratosis
Epidemiology
Glucocorticoids
Hematology
Hematopoietic stem cells
Infants
Literature reviews
Medical records
Medicine
Medicine & Public Health
Mutation
Oncology
Original Article
Patients
Point mutation
Stem cell transplantation
Stem cells
Transplantation
China
Dyskeratosis congenita
Clinical feature
Bone marrow failure syndrome
China
Aplastic anemia
Online AccessGet full text

Cover

More Information
Summary:Dyskeratosis congenita (DC) is a rare-inherited bone marrow failure syndrome associated with multi-system disorder. To summarize the clinical features, epidemiology, and treatment of DC in mainland China, we retrospectively reviewed the medical records of two patients diagnosed with DC at our hospital and published reports on other DC patients in mainland China. The clinical features of 82 DC patients were summarized. The median age of onset was 5 years, but the median age at diagnosis was 16 years. Bone marrow failure occurred at a high rate of 44% and early, with a median onset age of 6 years (range 1–40 years). Only DKC1, TINF2, and TERT mutations were reported, which is a relatively simple signature. Aplastic anemia was treated mainly with low-dose androgens, glucocorticoids, or allogeneic hematopoietic stem cell transplantation, with an efficacy of 39% (14/36). In China, DC is relatively common in infants, with early age of onset but delayed diagnosis. Bone marrow failure occurred at a high rate and early. Improvement in the knowledge and awareness of DC combined with gene mutation tests will facilitate diagnosis and therapy in its early stages.
Bibliography:ObjectType-Case Study-3
SourceType-Scholarly Journals-1
content type line 23
ObjectType-Review-1
ObjectType-Feature-5
ObjectType-Report-2
ObjectType-Article-4
ISSN:0925-5710
1865-3774
DOI:10.1007/s12185-018-02582-x