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Fig. 6 | BMC Nephrology

Fig. 6

From: An overview of the multi-pronged approach in the diagnosis of Alport syndrome for 22 children in Northeast China

Fig. 6

The renal pathology of P13. a, b LM shows minor glomerular abnormalities in PAS and PASM staining. c, d EM shows irregular thinning of GBM. Genomic analysis. WES results of the patient and his parents indicate that P13 has 2 variants: e c.[4793 T > G], p.(L1598R), exon51, chr2–228,175,529 in COL4A3, inherited from his father. f c.[448G > C], p.(G150R), exon8, chrX:107815050, in COL4A5, inherited from his mother. The family pedigree of P13. g The proband’s mother has persistent hematuria and proteinuria with unknown cause and his grandfather died of uremia

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BMC Nephrology

ISSN: 1471-2369

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