case_images: PMC10475990_01
case_images: Imaging examinations: (A) CT scan showing liver and spleen enlargement (red arrow); (B) CT scan showing gallbladder neck stones (yellow circle); (C). MRCP showing a normal intrahepatic and extrahepatic biliary tree and pancreatic ductal system.
case_images: fgene-14-1229271-g001.jpg
case_images: PMC10475990_01_fgene-14-1229271-g001.jpg
case_images: F1
case_images: Magnetic resonance cholangiopancreatography (MRCP) demonstrated normal intrahepatic and extrahepatic biliary tree structures, as well as a normal pancreatic ductal system (Figure 1). Additionally, a whole abdomen computed tomography (CT) scan revealed the presence of multiple gallbladder stones, increased liver parenchymal density, and an enlarged spleen (Figure 1).
case_images: Pathological examinations. Hematoxylin and eosin staining liver cells with a large number of iron granules deposited in suspected Pyruvate Kinase Deficiency (PKD); (A) Original magnification x10; (B) Original magnification x200.
case_images: fgene-14-1229271-g002.jpg
case_images: PMC10475990_01_fgene-14-1229271-g002.jpg
case_images: F2
case_images: No obvious abnormity was found in the portal area, fibrous tissue, bile ducts, and blood vessels between lobules (Figure 2).
case_images: The results of the second-generation sequencing analysis of PKLR and UGT1A1 gene in Pyruvate Kinase Deficiency patient. (A) The patient's mutation sites of the PKLR gene: c.1276C>T (p.Arg426Trp); (B) The patient's mutation sites of the UGT1A1 gene:c.-55_-54insAT; (C) The patient's mutation sites of the UGT1A1 gene:c.1091C>T (p.Pro364Leu); (D) The patient's brother's mutation sites of the UGT1A1 gene:c.1091C>T (p.Pro364Leu).
case_images: fgene-14-1229271-g003.jpg
case_images: PMC10475990_01_fgene-14-1229271-g003.jpg
case_images: F3
case_images: T (p.Pro364Leu) in UGT1A1 (Figure 3).