Published online Nov 7, 2018. doi: 10.3748/wjg.v24.i41.4716
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
The female patient was admitted to our hospital with fatigue, jaundice, and a recently elevated γ-glutamyl transpeptidase (GGT) level.
The patient had a history of acute hepatitis at age 9 years and was diagnosed as having intrahepatic cholestasis of pregnancy in 2008.
Viral hepatitis (A-E), Epstein-Barr virus, cytomegalovirus infections, and other chronic cholestatic diseases were ruled out.
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.
Genetic testing revealed a pathogenic heterozygous mutation, ex13 c.1531G > A (p.A511T), in the ATP-binding cassette, subfamily B, member 4 (ABCB4) gene.
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.
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.
PFIC3 is caused by a mutation in the ABCB4 gene encoding multidrug resistance protein 3.
PFIC3 is a subtype of progressive familial intrahepatic cholestasis that differs from PFIC1 and PFIC2 in that serum GGT is elevated.