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.
题目: 儿童先天性角化不良临床分析.
目的: 总结儿童先天性角化不良临床特点、诊断过程、治疗以及预后，为诊治先天性角化不良提供临床参考。.
方法: 回顾性分析2016年5月-2024年5月在苏州大学附属儿童医院收治的先天性角化不良患儿临床资料，对所有患儿进行全外显子组测序(WES)并跟踪随访，复习相关文献。.
结果: 共纳入4例患儿，其中男1例，女 3 例。通过全外显子组测序发现2 例为 TINF2自发突变，1例为 TERT突变，1例为DKC1 突变，均有骨髓增生减低改变。2例行异基因造血干细胞移植，均植入良好，目前随访5年以上，患儿均停抗排异药物且存活；1例门诊随诊，1例拟行造血干细胞移植治疗。.
结论: 儿童先天性角化不良起病隐匿，基因诊断尤为重要，c.853_861delGTCATGCTG（p.285-287del）为 TINF2突变新位点，扩充了DC的基因突变谱。造血干细胞移植是先天性角化不良患儿骨髓衰竭有效的治疗手段，其他器官并发症的治疗依赖于进一步的探索。.
Keywords: dyskeratosis congenita; genetic diagnosis; bone marrow failure; hematopoietic stem cell transplantation; telomere length.