先天性角化不良患儿2例并文献复习  

Two Cases of Dyskeratosis Congenita in Pediatric Children and Literature Review

作　　者：顿建新 胡群[1] 刘爱国[1] 王雅琴[1] DUN Jianxin;HU Qun;LIU Aiguo;WANG Yaqin(Department of Pediatric Hematology,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,China)

机构地区：[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

出　　处：《医药导报》2024年第12期1977-1980,共4页Herald of Medicine

摘　　要：目的报道2例先天性角化不良患儿病例并进行文献复习,提高对该病的认识。方法回顾性收集华中科技大学同济医学院附属同济医院2例先天性角化不良患者的临床资料,分析其临床特点。使用高通量测序法分析患儿的突变基因,使用端粒末端限制性片段定量测定患儿端粒的长度,并在中国知网、万方数据库、PubMed数据库、Web of Science数据库分别以“先天性角化不良”“端粒生物学异常”“dyskeratosis congenita”、“telomere biology disorders”为关键词检索相关文献并进行文献复习,检索时间截止至2024年6月。结果病例1为男性患儿,因“指甲发育不良8年余、全血细胞减少1周”入院,查体患儿指甲及趾甲发育不良、颈部皮肤细网状沉着、张口受限。患儿DKC1基因突变且端粒长度偏短。病例2为女性患儿,因“确诊再生障碍性贫血3年余”入院,查体无特殊,血常规示全血细胞减少,患儿RTEL1基因和TERT基因错义突变。病例1给予输血支持治疗,病例2给予聚乙二醇重组人粒细胞刺激因子皮下注射,环孢素和艾曲泊帕乙胺醇片口服治疗,但效果欠佳。2例患儿均出现骨髓衰竭,建议行造血干细胞移植,后均失访。结论先天性角化不良是一种罕见病,临床表现多样,可以皮肤表现起病,也可以血液系统异常为首发表现,诊断需进行基因检测,目前尚缺乏有效的治疗药物,伴有骨髓衰竭者需进行造血干细胞移植。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.

关 键 词：先天性角化不良 突变基因 端粒生物学异常 骨髓衰竭 

分 类 号：R720.5[医药卫生—儿科]