case_images: PMC9399612_01
case_images: Renal biopsy after the first KTx showed increased formation of protein casts (A) with moderate to severe tubular atrophy and diffuse fibrosis of renal interstitium (B). Renal biopsy after the second KTx showed mild proliferation of glomerular mesangial cells and matrix without spherical or segmental sclerosis. Glomerulitis [g1, (C)] and peritubular capillaritis [ptc1, (D)] were present under a light microscope.
case_images: fped-10-938863-g0001.jpg
case_images: PMC9399612_01_fped-10-938863-g0001.jpg
case_images: F1
case_images: The patient then received the first renal graft biopsy in November 2018 (53 months after the first KTx), and chronic tubulointerstitial nephritis and chronic allograft rejection (interstitial sclerosis) were indicated (Figures 1A,B). Pathological findings showed slight glomerulonephritis and peritubular capillary vasculitis, along with acute renal tubular injury and special epithelial nuclear morphological changes (Figures 1C,D).
case_images: Follow-up of serum creatinine and tacrolimus concentrations after the second KTx in case 2.
case_images: fped-10-938863-g0002.jpg
case_images: PMC9399612_01_fped-10-938863-g0002.jpg
case_images: F2
case_images: Detailed follow-up data are shown in Figure 2.
case_images: Pedigrees of three families. Empty square and circle show healthy men and women. Vertical stripes represent patients with c.748G>C variants. Horizontal stripes represent patients with c.448C>T. The arrow represents the proband.
case_images: fped-10-938863-g0003.jpg
case_images: PMC9399612_01_fped-10-938863-g0003.jpg
case_images: F3
case_images: Table 1, and pedigrees are shown in Figure 3. The genetic information indicated that COQ8B-GN caused by COQ8B gene mutation was autosomal recessive.