以明显脾大及低氧血症为首发表现的先天性角化不良1例  

A case of dyskeratosis congenita with obvious splenomegaly and hypoxemia as the first manifestations

作　　者：刘丽娟 牛琼[1] 程宪永[1] 高昱[2] 刘成霞[1] Liu Lijuan;Niu Qiong;Cheng Xianyong;Gao Yu;Liu Chengxia(Department of Gastroenterology,Binzhou Medical University Hospital,Binzhou 256603,China;Department of Dermatology&STD,Binzhou Medical University Hospital,Binzhou 256603,China)

机构地区：[1]滨州医学院附属医院消化内科,滨州256603 [2]滨州医学院附属医院皮肤与性病科,滨州256603

出　　处：《国际医药卫生导报》2023年第17期2472-2475,共4页International Medicine and Health Guidance News

摘　　要：先天性角化不良是临床上一种罕见的遗传性疾病。本文报道滨州医学院附属医院1例以明显脾肿大、门静脉高压、低氧血症为首发表现的先天性角化不良的青少年病例,并且就先天性角化不良的诊断思维及本病例的疑点、难点展开讨论。Dyskeratosis congenita is a rare genetic disease.This paper reported a case of adolescent with dyskeratosis congenita with obvious splenomegaly,portal hypertension,and hypoxemia as the first manifestations in Binzhou Medical University Hospital,and discussed the diagnostic thinking of dyskeratosis congenita and the doubts and difficulties of this case.

关 键 词：先天性角化不良 食管狭窄 脾肿大和脾功能亢进 门静脉高压 

分 类 号：R596[医药卫生—内科学]