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Progressive Familial Intrahepatic Cholestasis Type 8 Due to a Novel KIF12 Gene Mutation

Year: 2026

Type: article

Abstract: This case report describes a 7-year-old boy with progressive familial intrahepatic cholestasis (PFIC) type 8 caused by a homozygous KIF12 mutation, presenting with jaundice, severe pruritus, digital clubbing, and advanced liver disease. The diagnosis was confirmed through a comprehensive evaluation integrating clinical findings, biochemical profiling, imaging, and whole-exome sequencing. Clinical images of clubbing and icterus enhance the diagnostic narrative, emphasizing key physical signs. This case contributes to the sparse literature on PFIC8, highlighting the critical role of molecular diagnostics in rare liver diseases and advocating for increased awareness and research into this understudied subtype of familial intrahepatic cholestasis.

Source: Gastroenterology Hepatology and Endoscopy Practice

DOI: 10.4103/ghep.ghep_51_25

Authors: Bharath Jayachandra, Thirunavukkarasu Arun Babu

Institutions: All India Institute of Medical Sciences, Mangalagiri, All India Institute of Medical Sciences

Language: English

Topic: Pediatric Hepatobiliary Diseases and Treatments

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W7147678478

FWCI:

Cites: 8

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