先天性角化不良一例临床和遗传学特点  

Clinical and genetic characteristics of a patient with dyskeratosis congenita

作　　者：李建国[1] 李岩[2] 林志淼[2] 马志红[2] 李君惠[1] 刘嵘[1] 师晓东[1] 杨勇[2] 王天有[1] 

机构地区：[1]首都儿科研究所附属儿童医院血液科,北京100020 [2]北京大学第一医院皮肤科

出　　处：《中华儿科杂志》2009年第11期867-870,共4页Chinese Journal of Pediatrics

基　　金：基金项目：北京市科技新星计划（20078006）

摘　　要：目的探讨以血小板减少就诊的先天性角化不良患儿的临床及遗传学特点。方法分析1例4岁10个月患儿的临床特点，采用聚合酶链反应及直接测序的方法检测DKCI基因。结果患儿1岁起病，表现皮肤网状色素沉着、甲萎缩和黏膜白斑三联征，伴有多系统受累；为DKC1（1058C—T，A353V）基因突变。结论患儿具有先天性角化不良的临床特点，存在DKC1基因突变，诊断X连锁隐性遗传型先天性角化不良。Objective To analyze the clinical features and gene mutation of a patient with dyskeratosis congenita, who was admitted in our hospital for thrombocytopenia. Method The clinical and laboratory data of a 4 years and 10 months old boy were summarized. DKCI gene was analyzed using PCR amplification and DNA sequencing. Result The age of onset of the boy was 1 year. He presented with abnormal cutaneous pigmentation, nail dystrophy and mucosal leukoplakia accompanied by muhi-system abnormalities. DKC1 （1058C-T,A353V）was detected in the patient. Conclusion The patient presented with classical features of dyskeratosis congenita and DKC1 （1058C-T,A353V） did exist in this patient. X- linked recessive dyskeratosis congenita was confirmed.

关 键 词：角化不良 先天性 骨髓 DKCl 

分 类 号：R686[医药卫生—骨科学]