Table 1.
Summary of findings of all DGKE-mediated kidney disease cases reported to date
| Patient Characteristics | All Patients (n=44) | HUS (n=35) | MPGN-Like (n=9) |
|---|---|---|---|
| Genetic status, n (%) | |||
| Parental consanguinity | 21/44 (48) | 12/35 (34) | 9/9 (100) |
| Homozygous DGKE mutation | 30/44 (68) | 21/35 (60) | 9/9 (100) |
| Clear loss-of-function DGKE genotypea | 33/44 (75) | 24/35 (69) | 9/9 (100) |
| Concurrent complement mutations | 3/44 (7) | 3/35 (86) | 0/9 (0) |
| First disease manifestation/diagnosis | |||
| Median age in yr (range) | 0.7 (0.2–17) | 0.6 (0.2–4.9)b | 2 (0.8–17)b |
| Documented viral trigger, n (%)c | 13/44 (30) | 13/35 (37) | — |
| Proteinuria at onset, n (%) | 26/26d (100) | 17/17 (100) | 9/9 (100) |
| Nephrotic-range proteinuria, n (%) | 21/26 (81) | 13/17 (76) | 8/9 (89) |
| Median sCr in mg/dl (range) | 2.1 (0.2–11.4) | 2.8 (0.2–11.4) | 0.6 (0.3–3) |
| Need for dialysis, n (%) | 22/42 (52) | 22/33 (67) | 0/9 |
| HUS relapses, n (%) | |||
| No. of HUS relapses | |||
| None | 10/35 (31) | 10/35 (31) | — |
| 1–2 | 13/35 (34) | 13/35 (34) | — |
| ≥3 | 12/35 (34) | 12/35 (34) | — |
| Viral trigger documented for at least one HUS relapse | 14/25 (56) | 14/25 (56) | — |
| Renal status at last documented clinic visit | |||
| Age in yr at last follow-up (range) | 10 (1–30) | 9 (1–25) | 19 (2–30) |
| Any proteinuria, n (%) | 36/42 (86) | 28/34 (82) | 8/8 (100) |
| Nephrotic-range proteinuria, n (%) | 13/42 (31) | 8/34 (24) | 5/8 (63) |
| Hematuria, n (%) | 24/31 (77) | 25/31 (81) | N/A |
| Progression to ESRD, n (%) | 10/44 (23) | 7/35 (20) | 3/9 (33) |
| Age at ESRD, in yr (range) | 12 (0.3–23) | 11 (0.3–18) | 19 (8–23) |
| Evidence of systemic complement activation documented at any time, n (%) | 10/44 (23) | 10/35 (29) | 0/9 (0) |
—, not relevant to patients without HUS episodes; sCr, serum creatinine; N/A, not available.
a
“Clear loss-of-function DGKE genotypes” are defined as any combination of two nonsense, frameshift, or splice-site DGKE mutations.
b
P<0.05 for difference between subgroups.
c
The denominator for this parameter is imprecise because for most patients without documentation of a viral trigger, few clinicians formally documented the absence of infection.
d
Denominators that are discordant with the total number of patients represent the number of patients with available data.