Tan YW, Ji HL, Lu ZH, Ge GH, Sun L, Zhou XB, Sheng JH, Gong YH. Ductopenia and cirrhosis in a 32-year-old woman with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature. World J Gastroenterol 2018; 24(41): 4716-4720 [PMID: 30416319 DOI: 10.3748/wjg.v24.i41.4716]
Corresponding Author of This Article
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. tyw915@sina.com
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
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: http://creativecommons.org/licenses/by-nc/4.0/
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: http://creativecommons.org/licenses/by-nc/4.0/
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. tyw915@sina.com
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 Processing time: 105 Days and 19 Hours
ARTICLE HIGHLIGHTS
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.
Treatment
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.
