A New Variant of an Old Itch: Novel Missense Variant in ABCB4 Presenting with Intractable Pruritus

Sahana Shankar; Apurva Pande; Thenral S Geetha; Karthik Raichurkar; Malikarjun Sakpal; Rajiv Lochan; Sonal Asthana

doi:10.1016/j.jceh.2021.04.010

A New Variant of an Old Itch: Novel Missense Variant in ABCB4 Presenting with Intractable Pruritus

J Clin Exp Hepatol. 2022 Mar-Apr;12(2):701-704. doi: 10.1016/j.jceh.2021.04.010. Epub 2021 Apr 29.

Authors

Sahana Shankar¹, Apurva Pande², Thenral S Geetha³, Karthik Raichurkar², Malikarjun Sakpal², Rajiv Lochan², Sonal Asthana²

Affiliations

¹ Division of Pediatric Gastroenterology, Department of Pediatrics, Mazumdar Shaw Medical Centre, Narayana Health, Bangalore, India.
² Aster Integrated Liver Care, Aster CMI Hospital, Bangalore, India.
³ Medgenome Labs Pvt Ltd, 3rd Floor, Narayana Netralaya Building, # 258/A, Bommasandra, Hosur Road, Narayana Health City, Bangalore, 560 099, India.

Abstract

We report a novel homozygous missense variant in ABCB4 gene in a Yemeni child born to consanguineous parents, with a significant family history of liver disease-related deaths, resulting in a progressive familial intrahepatic cholestasis (PFIC) type 3 phenotype requiring liver transplantation for intractable pruritus.

Keywords: ABCB11, ATP binding cassette subfamily B member 11; ABCB4 mutation; ABCB4, ATP-binding cassette subfamily B member 4; ALT, Alanine aminotransferase; AST, Aspartate aminotransferase; ATP8B1, ATPase phospholipid transporting 8B1; BSEP, bile salt export pump; FXR, farnesoid X receptor; GGT, Gamma Glutamyl- Transpeptidase; ICP, Intrahepatic cholestasis of pregnancy; MDR3, multidrug resistance p-glycoprotein 3; MYO5B, Myosin 5B; PFIC; PFIC, Progressive familial intrahepatic cholestasis; TJP2, Tight junction protein 2; congenital liver disease; liver transplantation.

Publication types

Case Reports