PMC8429817_01
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.
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F1
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).
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.
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F2
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).