case_images: PMC8429817_01
case_images: Histopathology of the renal biopsy specimen. (A) H&E (x 400) and (B) Masson (x 400) staining showed segmental glomerulosclerosis with mild-to-moderate proliferation of the mesangial cells and matrix. (C) PASM (x 400) staining revealed marked dilatation of the capillary lumina with lipoprotein thrombi. (D) Oil Red O (x 400) staining confirmed the presence of intraluminal lipid droplets.
case_images: fped-09-684814-g0001.jpg
case_images: PMC8429817_01_fped-09-684814-g0001.jpg
case_images: F1
case_images: Light microscopy showed segmental glomerulosclerosis in three out of nine samples and mild-to-moderate proliferation of the mesangial cells and matrix (Figures 1A,B). The capillary lumina were dilated due to the presence of lipoprotein thrombi with pale staining on periodic acid-methenamine silver (Figure 1C). Oil red O staining confirmed the presence of intraluminal lipid droplets (Figure 1D).
case_images: Mutation dictation of APOE and family pedigree of our patient. (A) The mutation in the patient (arrow). (B) The family pedigree of the patient. Proband III-2 is the present patient (arrow). Circles and squares indicate the females and males, respectively. The dotted symbol represents asymptomatic LPG carriers. II-1 and II-2 did not undergo genetic testing for special reasons, both of whom had no history of renal disease.
case_images: fped-09-684814-g0002.jpg
case_images: PMC8429817_01_fped-09-684814-g0002.jpg
case_images: F2
case_images: Genetic testing confirmed the presence of the c.127C>T (p.R43C) or Kyoto mutation of the APOE gene (Figure 2A). The APOE mutation in the patient and her grandfather were heterozygous (Figure 2B).