Relationship of familial cytochrome P450 4V2 gene mutation with liver cirrhosis: A case report and review of the literature

Figure 1 Computed tomography images of the upper abdomen of the index patient (II-1). A: Enhanced computed tomography (CT) (2020 Oct 23): The proportions of liver were disordered, the contour was not regular, and there was no obvious enhancement of liver parenchyma; the spleen was enlarged; a fluid density shadow was evident in the abdominal cavity; B: Scanning CT (2021 Oct 11): A fluid density shadow was present at the edge of liver; liver volume was increased; a liver fissure was widened, with uneven and blunt edges and no abnormal density foci; the spleen was enlarged and parenchyma density was uniform.

Figure 2 Pedigree of the index patient (II-1). Square: Male; Circle: Female; White symbol: Normal vision; Gray symbol: Night blindness; Black symbol: Completely blind; Bordered symbol: Cirrhosis; Arrow: Proband; Two horizontal lines: Inbreeding of first cousins.

Figure 3 Computed tomography images of the upper abdomens of six family members. A and B: I-1, I-2 (2022 Jan 20): The size and shape of liver and spleen were normal, and there was no obvious enhancement on enhanced scan; C: II-2 (2021 Oct 11): The proportions of the liver lobes were disordered and the contour was not regular; multiple low-density shadows were on the boundary, and elliptic shapes with different sizes were observed in liver, with a computed tomography (CT) value of about 13 HU; the spleen volume was significantly increased and the parenchyma density was uniform; there was no fluid accumulation in the abdominal cavity; D-F: II-3, II-4, and II-5 (2021 Oct 11): The liver was normal in size and shape had a smooth surface and a uniform density of parenchyma; the spleen was normal in size and density.

Figure 4 Sanger sequencing results of cytochrome P450 4V2 in patients II-1, I-1, and I-2. The CYP4V2 in patient II-1 is a deletion/insertion mutation of C.802-8_810delinsGC that leads to the early termination of translation.