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Case Reports
. 2023 Aug 11;10(8):e01113.
doi: 10.14309/crj.0000000000001113. eCollection 2023 Aug.

Variable Intrafamilial Expression of ABCB4 Disease

Lucia Zampaglione  1   2 , Anne-Laure Rougemont  3   4 , Laura Rubbia-Brandt  3 , Marc Abramowicz  5 , Michel Guipponi  5 , Enrica Marchionni  5 , McLin Valerie  4 , Nicolas Goossens  2   6
Affiliations
Case Reports

Variable Intrafamilial Expression of ABCB4 Disease

Lucia Zampaglione et al. ACG Case Rep J. .

Abstract

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.

Keywords: ABCB4; cholestasis; genotype; penetrance; phenotype; transplantation.

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Figures

Figure 1.
Figure 1.
Pedigree displaying the known genetic distribution of the ABCB4 mutation within the family.
Figure 2.
Figure 2.
Liver explant at 12 years. (A, B) Liver cirrhosis (A, gross findings; B, histology, Masson trichrome stain). (C) Faint and focal canalicular reactivity to MDR3/ABCB4, contrasting with the strong BSEP/ABCB11 positivity (inset).
Figure 3.
Figure 3.
Liver biopsy, 8 years after liver transplant. CK7 showing rare dystrophic interlobular bile ducts (arrow) and focal aberrant reactivity in periportal hepatocytes (arrowhead), suggestive of chronic cholestasis.
See this image and copyright information in PMC

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