PMC9622764_01
(A) results of the ABCB4 gene test. Gene mutation in c.959C > T and c.1429C > A (red arrows). c.1429C > A was observed due to the exchange of Glu to Lys in codon position 477, which is highly suspected to be a new genetic mutation. (B) Pedigrees showing affected proband, his sister and parents.
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F1
ABCB4 gene: c.959C > T (p.S320F)/c.1429C > A (p.Q477K) (Figure 1A). c.959C > T (p.S320F) has been reported previously in the literature, while c.1429C > A (p.Q477K) is a novel heterozygous pathogenic variant. ABCB4 c.959C > T (p.S320F) variant was identified in his father and c.1429C > A (p.Q477K) variant was identified in his mother. Pedigrees for the patient are shown in Figure 1B.
Liver biopsy showing focal nodular hyperplasia (A is marked with "*"), prominent bile ductular proliferation within fibrous bands and enlarged hepatocytes with feathery degeneration (red arrows in 2B), indicative of intrahepatic cholestasis. Accumulation of pigment in Kupffer cells (blue arrows in B). (Hematoxylin and Eosin staining, x20 and 400).
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F2
The postoperative pathological diagnosis showed intrahepatic cholestasis with progression to cirrhosis (Figure 2).