case_images: PMC10565027_01
case_images: The pathology of current patient at age of 12 years. (A) H&E staining indicated mild hepatocyte swelling (arrow) and areas of mild steatosis with mild sinusoidal dilatation around central vein (circle) with no inflammation or cirrhosis. (B) Masson staining showed fibrosis (Scheuer score 3). (C) Reticular fiber staining showed the exist of reticular scaffold structure without obvious collapse. (D) CD34 antibody marks the irregular outlines of the portal venules and narrow lumen.
case_images: fped-11-1236239-g001.jpg
case_images: PMC10565027_02_fped-11-1236239-g001.jpg
case_images: F1
case_images: Figure 1 and Supplementary Figure S2 show vascular changes with hepatic fibrosis (Staging 3, Scheuer's system).
case_images: PMC10565027_02
case_images: The pathology of current patient at age of 12 years. (A) H&E staining indicated mild hepatocyte swelling (arrow) and areas of mild steatosis with mild sinusoidal dilatation around central vein (circle) with no inflammation or cirrhosis. (B) Masson staining showed fibrosis (Scheuer score 3). (C) Reticular fiber staining showed the exist of reticular scaffold structure without obvious collapse. (D) CD34 antibody marks the irregular outlines of the portal venules and narrow lumen.
case_images: fped-11-1236239-g001.jpg
case_images: PMC10565027_02_fped-11-1236239-g001.jpg
case_images: F1
case_images: Figure 1 and Supplementary Figure S2 show vascular changes with hepatic fibrosis (Staging 3, Scheuer's system).
case_images: Mutated region, DGUOK, in proband, sister, and parents, with pedigree.
case_images: fped-11-1236239-g002.jpg
case_images: PMC10565027_02_fped-11-1236239-g002.jpg
case_images: F2
case_images: Figure 1 and Supplementary Figure S2 show vascular changes with hepatic fibrosis (Staging 3, Scheuer's system). Thousand Genomes Project (http://www.1000genomes.org/home), ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/), DECIPHER database (https://www.deciphergenomics.org/), or Leiden Open Variation Database (https://www.lovd.nl/). The distribution of variants in the proband and, as confirmed by Sanger sequencing, in his sister and parents indicated a recessive mode of inheritance (Figure 2).