PMC9204033_01
Pedigree and genetic analysis. Pedigree of the family (A). Asterisks indicate the individual investigated. The m.13513G > A/MT-ND5 variant heteroplasmy (B) in the peripheral blood (B), urinary sediment (U), and kidney biopsy (K) is reported. The mtDNA content from the kidney (C) from the proband (IV:1, n = 1) and controls (CTRLs, n = 6). Data were presented as a scatter plot with mean and SD.
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F1
His mother and sister were affected by an asymptomatic duplex collecting system (Figure 1).
Histology and electron microscopy. Masson's trichrome (200x): global (black arrow) and segmental (white arrows) glomerulosclerosis (A). H&E (400x): glomerulus with mesangial matrix expansion, mesangial hypercellularity, capillary loops adherent to Bowman capsule, and foam cells (black arrow) (B). Masson's trichrome (400x): foam cells (black arrow) and segmental (white arrows) sclerosis (C). Masson's trichrome (400x): diffuse interstitial fibrosis (D). H&E (400x): loss of apical cytoplasm, necrosis of individual cells, detachment of epithelial cells in tubular lumen (black arrow), denudation of the tubular basement membrane (white arrow) (E). PAS (400X): hyalinosis in a small artery (black arrow) (F). Mitochondrion with a cyst-like structure (arrowhead) in (a) and a myelin figure (arrow) in (b). In (c), the arrows represent the narrowing of a long mitochondrion and in (D) an electron-dense inclusion within a mitochondrion. The kidney of control: normal mitochondria contained in glomerulus (e) and proximal tubule (f) Scale bar: a = 0,5 microm; b = 0.45 microm; c = 1.25 microm; d = 1.25 microm; e = 0,5 microm; f = 1 microm
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F2
Renal biopsy specimens showed FSGS (Figure 2).
Optical coherence tomography (OCT). OCT (upper line) shows bilateral RNFL thinning more evident in the temporal sector. Computerized visual fields (lower line) show a generalized defect bilaterally.
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F3
Optical coherence tomography (OCT) disclosed a bilateral diffuse and severe thinning of the retinal nerve fiber layer (Figure 3).