case_images: PMC10879390_01
case_images: The medical imaging results of the patient. Abdominal contrast-enhanced CT revealed intrahepatic bile ducts dilation (A), multiple renal cysts (B), and splenomegaly (C). Magnetic resonance cholangiopancreatography (MRCP) scan showed the dilation of both extrahepatic and intrahepatic bile ducts, as well as multiple renal cysts (D).
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case_images: An enhanced CT scan showed liver cirrhosis, splenomegaly, polycystic kidneys, a small volume of ascites, and portal hypertension with open collateral circulation (Figures 1A-C). Additionally, MRCP revealed dilation of the common and intrahepatic bile ducts, as well as wall thickening and edema of the gallbladder (Figure 1D).
case_images: Histopathology of liver tissue. H&E staining (A) showed no significant lobular inflammation, nor signs of cholangitis, but there was portal tract enlargement with bridging fibrosis. Masson trichrome staining (B) demonstrated the enlargement of the portal area along with collagen fiber proliferation. Immunohistochemical staining of CK19 (C) revealed significant small bile duct proliferation in the portal areas.
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case_images: A liver biopsy (Figure 2) showed visible nodules without obvious intralobular inflammation, enlarged portal areas with bridging fibrosis, and a significantly increased number of small biliary ducts of various shapes.
case_images: Sequencing results of the PKD1 gene. Genetic analysis revealed two distinct missense mutations in the PKD1 gene: one is a paternally inherited mutation c.8296 T > C (Ser2766Pro), and the other is a maternally inherited variant c.9653G > C (Trp3218Ser).
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case_images: fig3
case_images: Genetic analysis revealed two distinct mutations in the PKD1 gene (Figure 3), determined to be biallelic mutations consisting of a paternally inherited mutation (c.8296