Table 2:
Information on genetic diagnosis in 75 individuals who underwent next generation sequencing and histological diagnosis by renal pathological diagnostic group.
| Pathological Diagnosis | Genetic Diagnosis | Number affected |
|---|---|---|
| Tubulointerstitial Kidney Disease (n=18) | MUC1 | 6 (34%) |
| UMOD | 4 (22%) | |
| HNF1B | 1 (5.5%) | |
| NPHP 1 | 1 (5.5%) | |
| IFT140 | 1 (5.5%) | |
| No diagnosis | 5 (27.5%) | |
| Chronic Glomerulonephritis (n = 15) | COL4A5 | 2 (13%) |
| UMOD | 1 (7%) | |
| MUC1 | 1 (7%) | |
| No Diagnosis | 11 (73%) | |
| Focal Segmental Glomerulosclerosis/Alport Syndrome (n=11) | COL4A5 | 5 (45%) |
| FANCI | 1 (10%) | |
| No Diagnosis | 5(45%) | |
| Thrombotic Microangiopathy (n=17) | UMOD | 2 (11.5%) |
| HNF1B | 2 (11.5%) | |
| MUC1 | 1 (6%) | |
| INF2 | 4 (24%) | |
| IFT140 | 1 (6%) | |
| No Diagnosis | 7 (41%) | |
| Non-specific causes (n=14) | COL4A5 | 1 (7%) |
| C3 | 1 (7%) | |
| WNK4 | 1 (7%) | |
| SLC3A1 | 1 (7%) | |
| HNF1B | 1 (7%) | |
| INF2 | 1 (7%) | |
| No Diagnosis | 8 (58%) | |