Table 4.
Long-term follow-up data and outcomes for newly described patients with DGKE mutations
| ID | HUS Relapse(s) | Long-Term Outcomes | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Trigger | Proteinuria | Hematuria | Acute Treatment | Maintenance Therapy | Age at Last Follow-Up, yr | Current CKD Stage | Age at ESRD, yr | Renal Tx | Proteinuria | Hematuria | ||
| 1.1 | 2 | Yes (viral) | Yes, NR | Yes | None | None | 25 | HD | 16 | No | Yes, NR | N/A |
| 1.2 | 5 | Unknown | Yes, NR | Yes | PI, dialysis, eculizumab | None | 14 | HD | 10 | No | Yes, NR | N/A |
| 2.1 | 3 | Yes (viral) | Yes, NR | Yes | Steroids | Steroids ACEi, ARB | 15 | CKD1 | — | No | Yes | Yes |
| 2.2 | 1 | Yes (viral) | Yes, NR | Yes | Dialysis, PE, steroids | ARB | 9 | Tx | 0.3 | Yes | No | No |
| 3.1 | 0 | — | — | — | — | ACEi, ARB | 5 | CKD1 | — | No | Yes | Yes |
| 4.1 | 6 | Yes (viral) | Yes, NR | Yes | PI | PI | 9 | CKD1 | — | No | Yes, NR | Yes |
| 5.1 | 1 | Yes (viral) | Yes, NR | Yes | HD, PI, eculizumab | eculizumab | 1.5 | CKD1 | — | No | No | No |
| 6.1 | 0 | — | — | — | — | ACEi | 2.5 | CKD1 | — | No | Yes | Yes |
| 7.1 | 1 | Yes (viral) | Yes, NR | Yes | PI | ACEi | 2 | CKD1 | — | No | No | Yes |
| 8.1 | 0 | — | — | — | — | ACEi | 20 | CKD2 | — | No | Yes | Yes |
Tx, kidney transplantation; NR, nephrotic range; HD, hemodialysis; N/A, not available; PI, plasma infusions; ACEi, angiotensin-converting enzyme inhibitors; ARB, angiotensin receptor blocker; PE, plasma exchange.