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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome

Fig. 1

The pathology of renal tissue biopsy in patients 1 and 2. (A) The kidney tissue obtained from patient 1 was subjected to immunofluorescence analysis. Upon examination with a light microscope, renal puncture tissue revealed the presence of 16 glomeruli. Of those, two cases exhibited globular sclerosis, accompanied by moderate proliferation of glomerular Mesangial cells and matrix. Additionally, irregular thickening of the basement membrane was observed, along with the formation of a fibrous crescent in two cells and segmental sclerosis in four segments. The renal tubular epithelium has undergone severe vacuolar degeneration, resulting in multifocal and patchy atrophy. Additionally, the renal interstitial area shows multifocal and patchy infiltration of lymphoid cells, monocytes, and foam cells, accompanied by fibrosis. Arteriole walls have thickened, and there is intimal hyperplasia, leading to lumen stenosis. (B) The ultrastructural analysis of the kidney tissue obtained from patient (1) The electron microscope revealed mild to moderate proliferation of glomerular mesangial cells and matrix, irregular thickening of the basement membrane, strat-ified dense layer and insect-like changes. There was extensive fusion of epithelial foot processes and no electron dense deposition. Additionally, there was renal tubular epithelial vacuolar degeneration, partial atrophy, renal interstitial lymphoid monocytes and foam cell infiltration with collagen fiber proliferation. (C) Histological examination was performed on the kidney of patient (2) The individual exhibited granular degeneration in the renal tubular epithelial cells, accompanied by focal foam-like cell infiltration. The Periodic Acid-Schiff staining revealed sclerotic glomeruli and foam-like cell infiltration in close proximity to the sclerosed glomeruli. Additionally, the Periodic Acid-Silver Methenamine staining displayed heterogeneous staining of the capillary loop basement membrane. However, the Masson staining did not indicate any discernible deposition of the furophilic protein in the glomeruli. (D) The kidney tissue obtained from patient 2 was subjected to ultrastructural analysis. The electron microscope images revealed the presence of cobweb-like structures and a torn basement membrane in all three samples

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