Early use of renin–angiotensin–aldosterone system inhibitors and stable renal function in familial focal segmental glomerulosclerosis with ACTN4 mutation: a case report and literature review

Figures

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  Fig. 1. Light and electron microscopic findings on renal biopsy (A) Hematoxylin–eosin (HE) staining and (B) Masson’s trichrome (MT) staining at × 100 magnification on the renal biopsy. Minimal fibrosis of the renal cortex was observed. Scale bars: 200 μm. (C) Segmental sclerotic glomerular images from periodic acid-schiff staining (left), co-staining with HE staining and periodic acid-methenamine-silver (center), and MT staining (right) at × 400 magnification. Segmental sclerosis was observed in 1 of 40 glomeruli. Scale bars: 20 μm. (D) Electron microscopic image of the segmentally effaced foot process at × 4000 (left, scale bar: 5 μm) and × 15,000 (right, scale bar: 1 μm) magnification. Arrowheads indicate areas of effaced foot processes is observed. No mitochondrial abnormalities or electron-dense deposits were observed

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  Fig. 2. Cyclin D1 staining in patient with ACTN4 mutation (A, B) Representative immunohistochemistry staining for cyclin D1 at × 400 magnification revealed several cyclin D1-positive podocytes. Cyclin D1 staining of extracapillary cells was negative in the control patient with minor glomerular abnormalities (A) but positive in our patient (B). Arrowhead indicates cyclin D1-positive podocyte. Scale bars: 20 μm. (C) Quantification graph representing the number of cyclin D1-positive podocytes in both patients. The cyclin D1-positive podocytes were counted and compared for all non-deficient complete glomeruli in each patient. Anti-cyclin D1 (E3P5S) rabbit monoclonal antibody (#55506S, cell signaling technology, Danvers, MA, USA) was used for the primary antibody. Data are presented as means ± standard deviation. *p < 0.05, analyzed by Student’s t-test