case_images: PMC10764090_01
case_images: Pedigree of the family. Black circles: hematuria, affected individual. Black squares: hematuria, proteinuria, proband. Circle within a square: carrier, asymptomatic individual.
case_images: cnd-2024-0014-0001-535493_F01.jpg
case_images: PMC10764090_01_cnd-2024-0014-0001-535493_F01.jpg
case_images: F1
case_images: The pedigree of the patient's family is shown in Figure 1.
case_images: a Light microscopy revealed global glomerulosclerosis and segmental sclerosis. b Double immunofluorescence staining for alpha1 (red) and alpha5 (green) showed that the glomerular basement membrane (GBM) and Bowman's capsule were completely negative for alpha5. c, d Electron microscopy revealed focal thickening with lamellation and segmental thinning of the GBM.
case_images: cnd-2024-0014-0001-535493_F02.jpg
case_images: PMC10764090_01_cnd-2024-0014-0001-535493_F02.jpg
case_images: F2
case_images: Interstitial fibrosis and foam cells were apparent on periodic acid-Schiff staining (Fig. 2a). Double immunofluorescence staining for alpha1 (red) and alpha5 (green) showed that the GBM and Bowman's capsule were negative for alpha5 (Fig. 2b). Electron microscopy revealed irregular thickening with lamellation and segmental thinning of the GBM (Fig. 2c, d).
case_images: a Sequences of the heterozygous c.827G>C variant. b Sequences of the hemizygous c.4351G>C variant.
case_images: cnd-2024-0014-0001-535493_F03.jpg
case_images: PMC10764090_01_cnd-2024-0014-0001-535493_F03.jpg
case_images: F3
case_images: Variants were also found in exon 1 of COL4A4 in his father, in exon 47 of COL4A5 in his mother, and in exons 1 and 47 of COL4A4 and COL4A5, respectively, in his sister (Fig. 3).