Progressive familial intrahepatic cholestasis type 3: a case report and literature review

Abstract

ObjectiveTo investigate the clinical and genetic characteristics of progressive familial intrahepatic cholestasis type 3 （PFIC3）. Methods One case of PFIC3 was reported. Using the keywords of “child”and “progressive familial intrahepatic cholestasis type 3” in English and Chinese, literature review was conducted from PubMed, SinoMed, CNKI, Wanfang Data and Chongqing VIP databases. Clinical data of PFIC3 children were collected and analyzed. Results The patient was a one-year-old boy presenting with cholestatic hepatitis as the main clinical manifestation. Next-generation sequencing revealed a homozygous missense mutation of ATP-blinding cassette, sub-family B, member 4 （ABCB4） gene as c.3230C > T （p.T1077M）, which was inherited from his parents. Using a variety of bioinformatic software, the novel mutation was predicted to be pathogenic. A total of 11 children with PFIC3 were collected. Part of them received drug treatment and the other children underwent liver transplantation. Those undergoing liver transplantation were almost recovered. Conclusions PFIC3 is relatively rare in clinical practice, which is clinically characterized by progressive intrahepatic cholestasis. PFIC3 children constantly die from liver failure during childhood or adolescence. The diagnosis of PFIC3 depends on genetic testing. Liver transplantation is the only option. The gene mutation site of this case expands the ABCB4 gene mutation spectrum and may contribute to the diagnosis of PFIC3.

Keywords

• |progressive familial intrahepatic cholestasis|child|abcb4 gene|gene mutation