以胆汁淤积性肝病为首发表现的X-连锁淋巴细胞异常增生症2型1例报告

周方; 李小芹; 王瑞锋; 孙波

doi:10.3969/j.issn.1001-5256.2019.08.034

以胆汁淤积性肝病为首发表现的X-连锁淋巴细胞异常增生症2型1例报告

DOI: 10.3969/j.issn.1001-5256.2019.08.034

河南省儿童医院郑州儿童医院郑州大学附属儿童医院消化科

基金项目:

河南省科技攻关项目(201503234)；

详细信息

中图分类号: R725.9
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出版历程
- 出版日期: 2019-08-20

X-linked lymphoproliferative disease type 2 with cholestatic liver disease as initial manifestation: A case report

Department of Gastroenterology, Children's Hospital Affiliated to Zhengzhou University &Zhengzhou Children's Hospital

Research funding:

摘要

摘要: <正>X-连锁淋巴细胞异常增生症（X-linked lymphoproliferative disease,XLP）是一种罕见的X连锁隐性联合免疫缺陷性疾病,男性发病,女性为携带者,XLP的发病率为百万分之一[1]。该病目前病因及发病机制未明,认为可能为遗传易感基因、免疫功能紊乱、环境及感染因素共同导致。XLP患儿的临床表现多样,早期诊断较为困难,大多数该病患者死于儿童期。根据其致病基因的不同,分为两型:XLP-1型和XLP-2型。XLP-2型发病率低,仅占17%。现对河南省儿童医院收治的1例以胆汁淤积性肝病为首发表现的XLP-2型患儿的临床和实
- 淋巴组织增殖性疾病 /
- 胆汁淤积 /
- X连锁凋亡抑制蛋白质
- lymphoproliferative disorders /
- cholestasis /
- X-linked inhibitor of apoptosis protein

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参考文献(16)

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