Two Cases of Dyskeratosis Congenita in Pediatric Children and Literature Review
10.3870/j.issn.1004-0781.2024.12.016
- VernacularTitle:先天性角化不良患儿2例并文献复习
- Author:
Jianxin DUN
1
;
Qun HU
;
Aiguo LIU
;
Yaqin WANG
Author Information
1. 华中科技大学同济医学院附属同济医院儿童血液/肿瘤病区,武汉 430030
- Keywords:
Dyskeratosis congenita;
Mutant gene;
Telomere biology disorders;
Bone marrow failure
- From:
Herald of Medicine
2024;43(12):1977-1980
- CountryChina
- Language:Chinese
-
Abstract:
Objective To report two cases of dyskeratosis congenita(DC)and provide a comprehensive literature review to improve the understanding of the disease.Methods Clinical characteristics of two DC cases were retrospectively collected and analyzed in Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology.Gene mutations were assessed by high-throughput sequencing analysis and telomere length was assessed by Terminal Restriction Fragment(TRF)analysis.A literature search was carried out using the National Knowledge Infrastructure(CNKI),Wanfang database,PubMed,and Web of Science,updated to June 2024,with"Dyskeratosis congenita"and"telomere biology disorders"as the keywords.Results Case 1 was a boy admitted with"nail dystrophy of fingers and toes for more than 8 years and pancytopenia for 1 week".Physical examination revealed fingernails and toenails dysplasia,reticular skin pigmentation over the neck,and restricted mouth opening.Genetic testing identified a mutation in the DKC1 gene and shorter telomeres.Case 2 was a girl admitted with"confirmed aplastic anemia over 3 years".Physical examination showed no specific abnormalities.A blood routine test showed pancytopenia,with missense mutations found in the RTEL1 and TERT genes.Case 1 received blood transfusion support,while Case 2 was treated with subcutaneous injections of PEGylated recombinant human granulocytes,cyclosporine,and eltrombopag olamine,but the outcomes were not satisfactory.Both cases developed bone marrow failure,prompting hematopoietic stem cell transplantation.However,both cases were lost to follow-up after discharge.Conclusions Dyskeratosis congenita is a rare disease with various clinical manifestations.It may present with skin manifestations or hematological abnormalities.A precise diagnosis is made through a genetic testing.Currently,efficacious medical treatment for DC is lacking,and hematopoietic stem cell transplantation is necessary for patients with bone marrow failure.
