Table 2.
Clinical characteristics of the patients with atypical hemolytic uremic syndrome carrying diacylglycerol kinase-ε mutations
| Patient | Sex | Age (yr) | Age at Onset (mo) | Proteinuria Onset Alb (g)/Cr (g) | Thrombocytopenia Onset | LDH (units/L)/Schisto | sCr onset (mg/dl) | Dialysis Onset | Histology | aHUS Recurrences | Plasma Infusions | Ecu Therapy | Last sCr (mg/dl) | Last Hematuria | Last Proteinuria Alb (g)/Cr (g) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HUS299 | M | 4 | 13 | 8 | Yes | 2138/yes | 7.7 | Yes | ND | No | No | No | 0.4 | None | 0.05 |
| HUS39 | M | 11 | 3 | >3 | Yes | 2727/yes | 2.8 | Yes | ND | Yes (1) | Yes | No | 0.8 | None | None |
| HUS40 | W | 17 | 7 | >3 | Yes | 4560/yes | 4 | Yes | TMA | Yes (3) | Yes | No | 1.5 | None | 0.3 |
| HUS272 | W | 4 | 8 | 12 | Yes | 1032/yes | 0.4 | No | TMA | Yes (>3) | Yes | Yes | 0.3 | +++ | 4.4 |
Alb, albumin; Cr, creatinine; LDH, lactate dehydrogenase; Schisto, schistocytes; sCr, serum creatinine; aHUS, atypical hemolytic uremic syndrome; Ecu, Eculizumab; M, man; ND, not done; W, woman; TMA, thrombotic microangiopathy.