Fig. 5

The renal pathology of P8. a, b LM shows minor glomerular abnormalities in PAS and PASM staining. c, d EM shows extensive thinning of GBM (70–150 nm) and fusion of the podocytic process. Genomic analysis. e WES results of the patient and her parents indicate that P8 has one variant in the COL4A3 gene: c.[3499G>A], p.(G1167R), exon 40, chr2:228159760, NM_000091, inherited from her mother. The family pedigree of P8. f Her mother presented with asymptomatic hematuria, while her grandfather received regular dialysis for 8 years since the diagnosis of uremia