Table 2.
Clinical characteristics of patients with or without CFHR5 variations.
| Patients with variation in CFHR5 gene (n = 14) | Patients without variations in CFHR5 gene (n = 94) | p* | |
|---|---|---|---|
| Sex % men | 8 (57.1) | 52 (55.5) | 0.87 |
| Age at diagnosis, years | 17 (8–29) | 22 (13–40) | 0.28 |
| Non-visible hematuria, present | 8 (57.1) | 55 (58.5) | 1.00 |
| Visible hematuria, present | 3 (21.4) | 190 (20.2) | 1.00 |
| Nephrotic syndrome, present | 8 (57.1) | 45 (47.8) | 0.57 |
| Renal impairment, present | 6 (42.8) | 35 (37.2) | 0.77 |
| Renal failure, present | 0 (0) | 12 (12.76) | 0.35 |
| Trigger, present | 2 (14.28) | 18 (19.1) | 1.00 |
| Familiarity, present | 2 (14.28) | 7 (7.4) | 0.38 |
| Serum C3, g/L | 0.87 (0.47–0.95) | 0.8 (0.45–1.16) | 0.61 |
| Serum C4, g/L | 0.26 (0.17–0.31) | 0.28 (0.20–0.37) | 0.27 |
| Classical pathway activity, CH50/ml | 45 (25–54) | 45 (23–60) | 0.70 |
| Alternative pathway activity (Alt), % | 39 (10–80) | 58 (1–84) | 0.93 |
| Decreased C3 | 10 (71.4) | 53 (56.3) | 0.38 |
| Decreased C3 with normal C4 | 5 (35.7) | 43 (45.7) | 0.48 |
| Serum FHR-5, mg/L | 1.54 (0.92–1.92) | 1.84 (1.43–2.45) | 0.039 |
| sC5b-9, ng/ml | 463 (371–695) | 413 (252–852) | 0.57 |
| Elevated sC5b-9 | 12 (85.7) | 65 (69.1) | 0.2 |
| C1q, mg/L | 95 (66.75-110.5) | 103 (83.0-125.5) | 0.34 |
| Factor H, mg/L | 469 (351–606) | 542 (386–757) | 0.16 |
| Factor I, % | 80 (67–102) | 93 (78–111) | 0.12 |
| Factor B, % | 82 (63–98) | 86 (66–104) | 0.56 |
| Factor D, µg/ml | 1.37 (0.67–2.6) | 2.3 (0.94–4.15) | 0.12 |
| C3a, ng/ml | 188 (604–241) | 127 (78–206) | 0.63 |
| Bb, µg/ml | 1.497 (0.62–2.15) | 1.52 (1.02–2.37) | 0.37 |
| C4d, ng/ml | 3.87 (2.67–6.13) | 5.42 (3.07–8.99) | 0.41 |
| C3NeF, present | 2 (14.28) | 23 (24.4) | 0.39 |
| C4NeF, present | 0 (0) | 13 (13.8) | 0.13 |
| Anti-Factor H, present | 2 (14.28) | 5 (34.8) | 0.2 |
| Anti-C1q, present | 2 (14.28) | 12 (12.7) | 0.97 |
| Anti-C3, present | 0 (0) | 5 (5.3) | 0.37 |
| Anti-Factor B, present | 1 (7.1) | 6 (6.3) | 0.9 |
| Positivity for >1 complement autoantibody+ | 2 (14.2) | 17 (18.08) | 0.66 |
| LPV carriers** | 1 (7.1) | 20 (21.2) | 0.26 |
Data presented are number (%) or median (interquartile range).
*Group comparisons were made with Mann–Whitney U test between “total” and “controls.”
**LPVs were detected in the following genes: CFH, CFI, CFB, C3, CD46, THBD
+The analyzed autoantibodies: anti-Factor H, anti-C3, anti-Factor B, C3NeF, C4NeF.
Reference ranges: C1q: 60–180 mg/L; C3: 0.9–1.8 g/L; C4: 0.15–0.55 g/L; CH50: 48–103 CH50/ml; Alt: 70%–105%; Bb: 0.49–1.42 μg/ml; C4d: 0.7–6.3 μg/ml; sC5b-9: 110–252 ng/ml; Factor D: 0.51–1.59 μg/ml; Factor H: 250–880 mg/L; Factor I: 70%–130%; Factor B: 70%–130%.
FHR-5, Factor H-related protein 5.
P value in bold refers to a statistically significant difference.