[A case of progressive familial intrahepatic cholestasis (type 3) as an initial manifestation of cirrhosis-related gastrointestinal bleeding]

R Q Li; J Q Xiao; Y Z Zhuge

doi:10.3760/cma.j.cn501113-20231124-00225

[A case of progressive familial intrahepatic cholestasis (type 3) as an initial manifestation of cirrhosis-related gastrointestinal bleeding]

Zhonghua Gan Zang Bing Za Zhi. 2023 Dec 20;31(12):1326-1328. doi: 10.3760/cma.j.cn501113-20231124-00225.

[Article in Chinese]

Authors

R Q Li¹, J Q Xiao², Y Z Zhuge¹

Affiliations

¹ School of Medicine, Southeast University, Nanjing 210008, China Department of Digestive System, Nanjing Drum Tower Hospital Affiliated to Medical College of Nanjing University, Nanjing 210008, China.
² Department of Digestive System, Nanjing Drum Tower Hospital Affiliated to Medical College of Nanjing University, Nanjing 210008, China.

PMID: 38253078
DOI: 10.3760/cma.j.cn501113-20231124-00225

Abstract

进行性家族性肝内胆汁淤积症为一种罕见遗传疾病，其中3型与ABCB4基因缺陷相关，临床上多表现为黄疸、皮肤瘙痒等，且多为儿童时期起病，青少年或成人时期以消化道出血为首发表现起病的病例较为罕见，此前鲜有报道。现报道1例以肝硬化相关消化道出血为首发表现的进行性家族性肝内胆汁淤积症（3型），并通过文献回顾加深了对该疾病的认识及肯定了基因检测等手段在该类疾病诊断中的重要价值。.

Keywords: ABCB4; Next-generation gene sequencing; Progressive familial intrahepatic cholestasis.

Publication types

Case Reports

MeSH terms

ATP Binding Cassette Transporter, Subfamily B
Cholestasis, Intrahepatic*
Humans
Liver Cirrhosis* / complications

Substances

ATP Binding Cassette Transporter, Subfamily B

Supplementary concepts

Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 3