case_images: PMC11750847_01
case_images: Renal pathological examination: (A) H&E staining (x100); (B) Masson staining (x400); (C) Periodic acid-Schiff (PAS) staining (x400); (D) Periodic acid-silver metheramine (PASM) staining (x400); (E,F) electron microscope image (x5,000). (A-D) Renal pathology revealed mild segmental proliferation of mesangial cells and matrix within the glomeruli, granular and vacuolar degeneration of renal tubular epithelial cells, a few renal tubules with luminal dilation accompanied by segmental epithelial cell detachment, occasional renal tubule atrophy, and multifocal foam cell infiltration in the renal interstitium. (E,F) The basement membrane varied in thickness, with thickening of the dense layer, some parts appeared torn or reticulated, and partial fusion of foot processes.
case_images: fped-12-1518553-g001.jpg
case_images: PMC11750847_01_fped-12-1518553-g001.jpg
case_images: F1
case_images: Renal pathology revealed mild segmental proliferation of mesangial cells and matrix within the glomeruli, granular and vacuolar degeneration of renal tubular epithelial cells, a few renal tubules with luminal dilation accompanied by segmental epithelial cell detachment, occasional renal tubule atrophy, and multifocal foam cell infiltration in the renal interstitium (Figure 1). These findings are considered indicative of AS (Figure 1).
case_images: Immunofluorescence staining alpha1, alpha3, alpha4, alpha5, ALB, IgM: alpha1 positive control is normal; expression of alpha3, alpha4, and alpha5 in glomerular basement membrane and tubular basement membrane is absent, expression in Bowman's capsule is normal. ALB (-); IgM (+).
case_images: fped-12-1518553-g002.jpg
case_images: PMC11750847_01_fped-12-1518553-g002.jpg
case_images: F2
case_images: Immunofluorescence indicated normal alpha1 positive control, as well as absent expression of alpha3, alpha4, and alpha5 in the glomerular basement membrane and tubular basement membrane, with normal expression in Bowman's capsule (Figure 2).
case_images: The genetic sequence of the patient: the patient has a heterozygous mutation at the gene locus.
case_images: fped-12-1518553-g003.jpg
case_images: PMC11750847_01_fped-12-1518553-g003.jpg
case_images: F3
case_images: Genetic testing confirmed the presence of a heterozygous COL4A3 missense mutation c.3210 (exon 37) G>A (NM:000091) (Figure 3).