Table 1.
Sphingolipid accumulation in glomerular diseases of genetic and non-genetic origin.
| Disease | OMIM | Mutated gene | Chromosomal location | Sphingolipid accumulating |
|---|---|---|---|---|
| SPHINGOLIPID ACCUMULATION IN GLOMERULAR DISEASE OF GENETIC ORIGIN | ||||
| Gaucher | 230800 | Acid beta-glucosidase 1 (GBA1) | 1q22 | GlcCer |
| Tay–Sachs | 272800 | Hexoseaminidase A (HEXA) | 15q23 | GM2 |
| Sandhoff | 268800 | Hexoseaminidase B (HEXB) | 5q13 | GM2 |
| Fabry | 301500 | Alpha-galactosidase A (GLA) | Xq22 | Gb3, Lyso-Gb3 |
| Hereditary inclusion body myopathy 2 | 600737 | UDP-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) | 9p13 | Hyposialylation of glycoproteins such as podocalyxin? |
| Niemann–Pick | 257220 607616 257200 | NPC1 NPC2 SMPD1 | 18q11 14q24 11p15 | Sphingomyelin |
| Nephrotic syndrome of the Finnish type | 256300 | NPHS1 | 19q13 | O-actetyl-GD3 |
| SPHINGOLIPID ACCUMULATION IN GLOMERULAR DISEASE OF NON-GENETIC ORIGIN | ||||
| Diabetic kidney disease | GlcCer, GM3, S1P, sphingosine? | |||
| Puromycin aminonucleoside (PAN)-induced nephropathy | GD3, O-actetyl-GD3 | |||
| HIV-associated nephropathy (HIVAN) | Gb3 | |||
| Focal segmental glomerulosclerosis (FSGS) | Sphingomyelin | |||
| Acute ischemia reperfusion injury | Ceramide | |||