PMC7655776_01
Renal biopsy findings. Light microscopy of renal tissue showing glomerular tuft collapse with podocyte hypertrophy (A), focal segmental mild mesangial hypercellularity (B), and global glomerulosclerosis (C) with mild focal interstitial fibrosis and mild lymphocytic interstitial infiltrate (A,C). (A: Masson's trichrome, x400; B,C: HE, x400). Electron microscopy image of renal tissue (D) showing foot processes effacement (x8000).
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F1
Electron microscopy showed segmental capillary collapse, podocyte foot processes effacement (~70% of loops) together with podocyte hypertrophy and microvillous change, see Figure 1.
Genetic finding of OCRL pathogenic variant. From above: nucleotide reference sequence, amino acid reference sequence, electropherogram from Sanger sequencing of aligned forward and reverse sequences. The picture was obtained from Geneious Prime software. (A) Hemizygous NM_000276.3 c.952C>T in affected patient. (B) Heterozygous NM_000276.3 c.952C>T in the mother without a disease phenotype. (C) Negative sequencing results of the healthy father.
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F2
The patient's mother is a healthy carrier of the c.952C>T p.(Arg318Cys) variant, while analysis of the father's DNA was negative (Figure 2).