Table 6.
Patients without identified variations
| Patient | Suspected Mode of Inheritance | Sex | Proteinuria (Age [yr]) | Renal Failure (Age [yr] at ESRF) | Deafness | Eye | EM | Immunofluorescence | Modified Flinter Score |
|---|---|---|---|---|---|---|---|---|---|
| 16 | AR | W | Y (NA) | Y (ESRF at 25) | Y | NA | Y (thick and thin) | NA | 2 |
| 21 | X or AR | W | N | N | Y | NA | Y (thick and thin) | GBM, normal; skin, normal | 2 |
| 23 | AD | M | NA | Y | NA | NA | N | NA | 1 |
| 33 | X or AD | M | Y | Y | NA | NA | N | NA | 1 |
| 39 | X | M | NA | Y | N | NA | NA | Skin, negative | 2 |
| 40 | X, AD, or AR | W | N | N | N | N | Y (thin) | NA | 0 |
| 43 | X or AR | M | NA | NA | Y | Y | NA | Skin, discontinuous | 2 |
| 44 | X, AD, or AR | W | NA | N | Y | NA | N | NA | 1 |
| 49 | BFH | W | Y (15) | N | N | N | Y (normal) | NA | 1 (BFH) |
| 52 | X | M | Y (26) | Y | Y | Y | N | Skin, negative | 4 |
| 56 | X or AD | W | Y (64) | N | N | NA | Y (thick and thin) | GBM, normal | 2 |
| 59 | X | W | Y (4) | N | N | NA | N | GBM, discontinuous | 1 |
| 69 | BFH | M | N (29) | N | N | NA | N | NA | 1 (BFH) |
| 71 | BFH | W | N (3) | N | N | N | N | NA | 1 (BFH) |
| 74 | X | M | NA | Y (ESRF at 21) | Y | N | N | NA | 2 |
| 80 | X or AR | M | N (7) | N | N | N | N | NA | 1 |
| 81 | X | W | NA | NA | Y | N | N | NA | 2 |
EM, electron microscopy; AR, autosomal recessive; W, woman; Y, yes; NA, not applicable; X, X-linked; N, no; AD, autosomal dominant; M, man; BFH, benign familial hematuria.