Case Report
Copyright ©The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Nov 7, 2018; 24(41): 4716-4720
Published online Nov 7, 2018. doi: 10.3748/wjg.v24.i41.4716
Ductopenia and cirrhosis in a 32-year-old woman with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature
You-Wen Tan, Hai-Lei Ji, Zhong-Hua Lu, Guo-Hong Ge, Li Sun, Xin-Bei Zhou, Jian-Hui Sheng, Yu-Hua Gong
You-Wen Tan, Hai-Lei Ji, Guo-Hong Ge, Li Sun, Xin-Bei Zhou, Jian-Hui Sheng, Yu-Hua Gong, Department of Hepatology, The Third Hospital of Zhenjiang Affiliated Jiangsu University, Zhenjiang 212003, Jiangsu Province, China
Zhong-Hua Lu, Department of Liver Disease, Wuxi No. 5 People’s Hospital Affiliated to Jiangnan University, Wuxi 214000, Jiangsu Province, China
Author contributions: Tan YW, Ji HL, and Lu ZH contributed equally to this work; Tan YW and Ge GH designed the research; Ji HL, Lu ZH, Sun L, Zhou XB and Gong YH collected and analyzed the data, and drafted the manuscript; Lu ZH and Sheng JH performed the liver pathological evaluations; Tan YW and Ji HL wrote and revised the manuscript; all authors have read and approved the final version to be published.
Informed consent statement: The study was approved by the Medical Ethics Committee of the Third Hospital of Zhenjiang Affiliated Jiangsu University, and written informed consent was obtained from the patient.
Conflict-of-interest statement: All authors have no conflict of interest related to the manuscript.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Correspondence to: You-Wen Tan, PhD, Chief Doctor, Department of Hepatology, The Third Hospital of Zhenjiang Affiliated Jiangsu University, 300 Daijiamen, Runzhou District, Zhenjiang 212003, Jiangsu Province, China.
Telephone: +86-13914567088 Fax: +86-511-88970796
Received: July 24, 2018
Peer-review started: July 25, 2018
First decision: August 27, 2018
Revised: August 31, 2018
Accepted: October 5, 2018
Article in press: October 5, 2018
Published online: November 7, 2018
Case characteristics

The female patient was admitted to our hospital with fatigue, jaundice, and a recently elevated γ-glutamyl transpeptidase (GGT) level.

Clinical diagnosis

The patient had a history of acute hepatitis at age 9 years and was diagnosed as having intrahepatic cholestasis of pregnancy in 2008.

Differential diagnosis

Viral hepatitis (A-E), Epstein-Barr virus, cytomegalovirus infections, and other chronic cholestatic diseases were ruled out.

Laboratory diagnosis

High serum total bilirubin level was repeatedly observed, whereas alkaline phosphatase and GGT were also repeatedly increased and remained at 5-10 times the upper limit of normal.

Imaging diagnosis

Genetic testing revealed a pathogenic heterozygous mutation, ex13 c.1531G > A (p.A511T), in the ATP-binding cassette, subfamily B, member 4 (ABCB4) gene.

Pathological diagnosis

Liver biopsy led to the diagnosis of biliary cirrhosis with ductopenia.


The patient’s symptoms and liver function improved after 3 mo of treatment with ursodeoxycholic acid.

Related reports

Reports on progressive familial intrahepatic cholestasis type 3 (PFIC3) with high GGT are rare. We identified a mutant gene fragment in PFIC3, which has not been previously reported in the East Asian population.

Term explanation

PFIC3 is caused by a mutation in the ABCB4 gene encoding multidrug resistance protein 3.

Experiences and lessons

PFIC3 is a subtype of progressive familial intrahepatic cholestasis that differs from PFIC1 and PFIC2 in that serum GGT is elevated.