Table 3.
Kidney diseases associated with alterations in Notch receptors and ligands.
| Gene | Disease | Kidney Disease | References |
|---|---|---|---|
| JAG1 | ALGS | Dysplasia (generalized, focal, with vesicoureteral reflux, with renal insufficiency), renal tubular acidosis, vesicoureteral reflux, hydronephrosis, obstruction (retero-pelvic junction, with hydronephrosis), chronic renal failure, endstage renal disease, acute kidney injury, renal lipidosis, renal artery stenosis (bilateral), focal segmental glomerulosclerosis, duplex collecting system | [94,95] |
| NOTCH2 | ALGS | Severe infantile renal disease (small kidneys with cysts bilaterally, renal tubular acidosis, and renal insufficiency), proteinuria that resulted in renal failure, tubular acidosis and dysplastic kidneys, vesicoureteral reflux, echogenicity of kidneys, Neonatal renal failure | [90,91] |
| NOTCH2 | HCS/SFPKS | Cystic disease, hypoplasia, vesicoureteral reflux, glomerulonephritis, hypertension, chronic renal failure, bilateral dysplastic kidneys with numerous, small parenchymal cysts, associated with bilateral, high-grade vesicoureteral reflux | [96,97] |
| NOTCH3 | CADASIL | Focal segmental mesangial proliferation, the loss and degeneration of arterial medial smooth muscle cells and arterial intimal thickening. Immunofluorescence analysis of glomeruli revealed IgA deposition in the mesangial area. Electron microscope analysis revealed electron-dense deposition also in the mesangial area. In addition, granular osmophilic material (GOM) was observed in the extra-glomerular mesangial area and around the vascular smooth muscle cells | [98] |
| NOTCH3 | CADASIL | Chronic kidney disease, renal histological analysis showed severe arteriosclerosis and mild interstitial fibrosis | [99] |
| NOTCH1 | DKD | Higher Notch1 expression observed in glomerulosclerosis | [62] |