Clinical Analysis of Dyskeratosis Congenita in Children.
10.19746/j.cnki.issn.1009-2137.2025.03.043
- Author:
Wen-Qi LU
1
;
Shao-Yan HU
1
;
Jing GAO
1
;
Wei GAO
1
;
Jun-Jie FAN
1
Author Information
1. National Clinical Research Center for Hematologic Diseases, Children's Hospital of Soochow University, Suzhou 215127, Jiangsu Province, China.
- Publication Type:Journal Article
- Keywords:
dyskeratosis congenita;
genetic diagnosis;
bone marrow failure;
hematopoietic stem cell transplantation;
telomere length
- MeSH:
Humans;
Dyskeratosis Congenita/therapy*;
Hematopoietic Stem Cell Transplantation;
Male;
Mutation;
Female;
Retrospective Studies;
Telomerase/genetics*;
Telomere-Binding Proteins/genetics*;
Child;
Cell Cycle Proteins/genetics*;
Nuclear Proteins/genetics*;
Child, Preschool;
Prognosis;
Exome Sequencing
- From:
Journal of Experimental Hematology
2025;33(3):906-912
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To summarize the clinical characteristics, diagnosis, treatment and prognosis of dyskeratosis congenita (DC) in children, and to provide clinical experience for the diagnosis and treatment of DC.
METHODS:The clinical data of children with dyskeratosis congenital admitted to Children's Hospital of Soochow University from May 2016 to May 2024 were retrospectively analyzed. Whole exome sequencing (WES) was performed, the patients were followed up and the related literature was reviewed.
RESULTS:A total of 4 patients were enrolled. There were 1 male and 3 females. Two patients had spontaneous TINF2 mutation, one had TERT mutation, and one had DKC1 mutation. All of them had bone marrow hypoplasia. Two patients underwent allogeneic hematopoietic stem cell transplantation, and both had good engraftment. Anti-rejection drugs were stopped, and they survived more than 5 years of follow-up. One patient was followed up in outpatient department, and another patient was scheduled to undergo hematopoietic stem cell transplantation.
CONCLUSION:The onset of dyskeratosis congenita in children is insidious, so genetic diagnosis is particularly important. c.853_861delGTCATGCTG (p.285-287del) was a new mutation site of TINF2, which expanded the gene mutation spectrum of DC. Hematopoietic stem cell transplantation is an effective treatment for bone marrow failure, and the treatment of other organ complications depends on further genetic exploration.
