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Variable Intrafamilial Expression of ABCB4 Disease.

Lucia Zampaglione^1,2, Anne-Laure Rougemont^3,4, Laura Rubbia-Brandt³

¹Division of Internal Medicine, Hôpital du Valais, Sion, Switzerland.

ACG Case Reports Journal

|August 14, 2023

Summary

This summary is machine-generated.

Living-related liver donation is feasible for Progressive Familial Intrahepatic Cholestasis type 3 (PFIC3). A father with the same ABCB4 mutation successfully donated to his son with advanced PFIC3.

Keywords:

ABCB4 cholestasis genotype penetrance phenotype transplantation

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Area of Science:

Hepatology
Genetics
Transplantation

Background:

Progressive Familial Intrahepatic Cholestasis type 3 (PFIC3) is a rare genetic liver disease.
It is caused by mutations in the ABCB4 gene, leading to cholestasis.
PFIC3 exhibits variable clinical presentations and incomplete penetrance, complicating treatment strategies.

Observation:

A patient with PFIC3 developed decompensated cirrhosis at age 11.
The patient's father was identified as a living donor.
The father carried the same homozygous ABCB4 mutation as the patient.

Findings:

The father underwent successful living donor liver transplantation.
The patient experienced long-term follow-up post-transplantation.
This case demonstrates the viability of living-related donation in PFIC3.

Implications:

Living-related liver donation can be a safe and effective option for pediatric PFIC3 patients.
This approach may be suitable even when the donor shares the causative mutation.
Further research into genotype-phenotype correlations in PFIC3 is warranted to guide donor selection.