Table 1.
Clinical and genetic data.
| Patient/subject | Gender (M/F) | Age at time of study (years) | Diagnosis | Genetic aberrationsb | Convertase-stabilizing factors present (Y/N) | C3 levelsg (mg/L; 700–1500) |
|---|---|---|---|---|---|---|
| (a) C3G cohort | ||||||
| P1 | M | 63 | DDD | N | NA | |
| P2 | M | 10 | C3GN | N | NA | |
| P3 | M | 66 | C3GN | N | 588 | |
| P4 | M | 52 | DDD | C3 c.26T>C (p.Leu9Pro)c located in signal sequence | N | NA |
| P5 | M | 43 | C3GN | N | Normal | |
| P6 | F | 42 | C3GN | N | Normal | |
| P7 | M | 37 | C3GN | N | 941 | |
| P8 | F | 33 | C3Ga | N | NA | |
| P9 | M | 6 | DDD | N | 644 | |
| P10 | M | 9 | C3Ga | N | 660 | |
| P11 | M | 11 | C3GN | N | 530 | |
| P12 | F | 44 | C3GN | Y | 102 | |
| P13 | M | 7 | DDD | CFI c.1217G>A (p.Arg406His)d (39) | Y | Decreased |
| P14 | F | 19 | C3Ga | CFH c.2850G>T (p.Gln950His)e (15), f(40) | Y | NA |
| P15 | M | 27 | C3GN | C3 c.962G>A (p.Gly321Glu)c | Y | NA |
| P16 | F | 6 | C3GN | CFH full length deletionc | Y | 500 |
| P17 | F | 7 | C3Ga | Y | NA | |
| P18 | M | 10 | C3GN | Y | 220 | |
| P19 | M | 7 | DDD | Y | 210 | |
| P20 | F | 9 | DDD | Y | 100 | |
| P21 | F | 7 | DDD | Y | 510 | |
| P22 | M | 5 | DDD | Y | 110 | |
| P23 | M | 15 | C3GN | Y | NA | |
| P24 | F | 8 | C3GN | CFHR5 c.542G>C (p.Arg181Thr)c | Y | 110 |
| P25 | M | 9 | DDD | Y | 82 | |
| P26 | F | 5 | C3GN | Y | 830 | |
| P27 | M | 15 | C3GN | Y | 70 | |
| (b) Family with complement factor B mutation and aHUS | ||||||
| II. 5 | M | 41 | – | N | ||
| II. 6 | F | 40 | – | CFB c.967A>G (p.Lys323Glu)f (41, 42) | Y | |
| III. 1 | F | 22 | – | N | ||
| III. 2 | M | 18 | – | N | ||
| III. 4 | F | 14 | aHUS | CFB c.967A>G (p.Lys323Glu)f (41, 42) | Y | |
| III. 5 | F | 7 | – | N | ||
| III. 6 | F | 4 | aHUS | CFB c.967A>G (p.Lys323Glu)f (41, 42) | Y | 260 |
aNo distinction possible into C3GN or DDD, since no electron microscopy was performed or no data available.
bAll genetic variants found were heterozygous.
cTo the best of our knowledge, not previously reported in context of C3G.
dPreviously reported in a DDD patient.
ePreviously reported in C3GN patients.
fPreviously reported in aHUS patients.
gC3 levels were measured by nephelometry with the normal range indicated between brackets. Data given are those available as closest to the time of convertase activity assessment. For samples obtained from peripheral centers and from which C3 data were accessible, results are presented as “normal” or “decreased” since normal ranges vary between centers.
aHUS, atypical hemolytic uremic syndrome; C3G, C3 glomerulopathy; C3GN, C3 glomerulonephritis; DDD, dense deposit disease; NA, not available.