case_images: PMC10601884_01
case_images: Histopathology study of renal biopsy from the proband. a PAS staining showed the normal glomerulus with slight mesangial hyperplasia (black arrow), Bar: 200 mum. b PAS staining showed the tubular dilatation and epithelial hyperplasia (black arrow), Bar: 100 mum. c Electron microscopy revealed mesangial deposition of electron-dense consistent (red arrow), Bar: 5 mum. d Immunological staining of IgA was positive. e Immunological staining of C3 was positive.
case_images: cnd-2023-0013-0001-531891_F01.jpg
case_images: PMC10601884_01_cnd-2023-0013-0001-531891_F01.jpg
case_images: F1
case_images: Light microscopy revealed 10 glomeruli, all of which were normal except slight mesangial hyperplasia (Fig. 1a). Of note, slight tubular atrophy and dilatation were observed, with the thickening of base membrane (Fig. 1b). Electron microscopy revealed mesangial expansion with electron-dense deposits consistent with IgAN (Fig. 1c). The immunological staining of IgG, IgM, C4, and C1q was negative, while IgA, C3, kappa, and lambda were positive (Fig. 1d, e).
case_images: PMC10601884_02
case_images: Identification of the heterozygous variant in the family. a Pedigree of the Chinese family. Affected family members are denoted in black. Arrow indicates the proband. The 5-year-old son of the proband also had heterozygous variant (indicated as Aa). b Direct Sanger sequencing confirmed the heterozygous variant in UMOD gene.
case_images: cnd-2023-0013-0001-531891_F02.jpg
case_images: PMC10601884_02_cnd-2023-0013-0001-531891_F02.jpg
case_images: F2
case_images: In addition, the variant was further confirmed by Sanger sequencing (Fig. 2).