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Variable Intrafamilial Expression of ABCB4 Disease. 2023
Lucia Zampaglione, and
Anne-Laure Rougemont, and
Laura Rubbia-Brandt, and
Marc Abramowicz, and
Michel Guipponi, and
Enrica Marchionni, and
McLin Valerie, and
Nicolas Goossens
Division of Internal Medicine, Hôpital du Valais, Sion, Switzerland.
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare cholestatic liver disease with autosomal recessive inheritance caused by mutations in the ABCB4 gene. The clinical presentation of PFIC3 varies significantly, displaying incomplete penetrance without clear genotype-phenotype correlations. As such, the suitability of living-related liver donation for children with advanced disease has been questioned. We report here the long-term follow-up of a patient with PFIC3 resulting in decompensated cirrhosis at 11 years who successfully underwent living donor liver transplantation from his father, who carried the same ABCB4 homozygous mutation.
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