Table 1.
Comparison of clinical variables in VHLR200W homozygotes and VHL wildtype controls. Results in median (interquartile range) were presented unless otherwise indicated. Wilcoxon's rank sum test was applied in all comparisons except gender, which used Fisher's exact test. Subjects with ferritin concentration ≥21 ug/l are presented in B, where ferritin concentration ranged from 24 to 156 μg/l in control individuals and from 23 to 131 μg/l in VHLR200W homozygotes (P=0.4).
| WT | VHLR200W | P | |||
|---|---|---|---|---|---|
| N | Median (IQR) | N | Median (IQR) | ||
| A. All subjects | |||||
| Age (years) | 21 | 36 (31, 54) | 24 | 35.5 (26, 52) | 0.4 |
| Female gender n (%) | 21 | 12 (57%) | 24 | 15 (63%) | 0.8 |
| Systolic blood pressure (mm Hg) | 21 | 120 (114, 125) | 23 | 112 (105, 122) | 0.1 |
| Diastolic blood pressure (mm Hg) | 21 | 81 (76, 85) | 23 | 78 (72, 85.5) | 0.6 |
| Pulse pressure (mm Hg) | 21 | 40 (35, 43) | 23 | 39 (30, 43) | 0.2 |
| Red blood cells (1000/ul) | 21 | 4.5 (4.2, 4.9) | 24 | 6.9 (6.4, 7.8) | <0.001 |
| Hemoglobin (g/dl) | 21 | 125 (121, 139) | 24 | 183 (155, 191) | <0.001 |
| Hematocrit (%) | 21 | 37.4 (36.5, 41.5) | 24 | 56.2 (50.2, 58.6) | <0.001 |
| Platelet (1000/ul) | 21 | 248 (213, 301) | 23 | 220 (189, 286) | 0.3 |
| Ferritin (ug/l) | 19 | 58 (26, 76) | 24 | 14 (7, 25) | 0.001 |
| Erythropoietin (IU/l) | 19 | 7.4 (5.4, 10.5) | 23 | 48.4 (20, 75.1) | <0.001 |
| Vascular endothelial growth factor (pg/ml) | 16 | 0.2 (0.2, 0.3) | 23 | 0.2 (0.2, 5.7) | 0.039 |
| B. Subset matched for ferritin | |||||
| Age (years) | 17 | 40 (31, 56) | 8 | 48 (34, 53) | 0.9 |
| Female gender n (%) | 17 | 9 (53%) | 8 | 5 (63%) | 1 |
| Systolic blood pressure (mm Hg) | 17 | 120 (118, 125) | 8 | 109 (104, 126) | 0.2 |
| Diastolic blood pressure (mm Hg) | 17 | 82 (78, 85) | 8 | 81 (77, 91) | 0.9 |
| Pulse pressure (mm Hg) | 17 | 40 (35, 47) | 8 | 31 (25, 40) | 0.047 |
| Red blood cells (1000/ul) | 17 | 4.5 (4.2, 5) | 8 | 6.9 (6.2, 7.8) | <0.001 |
| Hemoglobin (g/dl) | 17 | 128 (124, 141) | 8 | 187 (160, 191) | <0.001 |
| Hematocrit (%) | 17 | 39.5 (36.5, 42.8) | 8 | 54.5 (50.2, 58.6) | <0.001 |
| Platelet (1000/ul) | 17 | 251 (213, 301) | 8 | 248 (179, 292) | 0.5 |
| Ferritin (ug/l) | 17 | 62 (29, 78) | 8 | 46 (28, 64) | 0.4 |
| Erythropoietin (IU/l) | 17 | 7.2 (5.4, 10.1) | 8 | 50 (18.5, 79.3) | <0.001 |
| Vascular endothelial growth factor (pg/ml) | 12 | 0.2 (0.2, 0.3) | 8 | 4.6 (0.2, 14.4) | 0.025 |