Low Phospholipid‐Associated Cholelithiasis in a Mother–Son Pair Associated With a Novel ABCB4 Frameshift Variant

Figures

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  FIGURE 1. Pathological findings from the liver biopsy of the proband's son. (A, B) The portal tract shows mild lymphoplasmacytic infiltration, mainly composed of lymphocytes and plasma cells, within fibrotic stroma. The interlobular bile duct was absent, the portal venule was narrowed, and the hepatic arteriole was preserved. Lobular hepatocytes were swollen, without significant lobular inflammation or interface hepatitis (hematoxylin and eosin stain, ×200). (C) Periportal sinusoidal capillarization, indicating portal vein narrowing with compensatory predominance of arterial blood supply within the liver (CD34 immunohistochemistry, ×200). (D) Perisinusoidal fibrosis with portal‐to‐portal (P–P) bridging fibrosis (reticulin stain).

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  FIGURE 2. Sanger sequencing chromatograms confirming the ABCB4 c.715_716insTT (p.Ser239PhefsTer9) variant in the mother–son pair. (A) Proband's son; (B) Proband (mother). Red arrows indicate the location of the heterozygous variant in both patients.

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  FIGURE 3. Pedigree chart of the family.