Table 5.
Clinical characteristics of renal angiomyolipoma by mutational status.
| Characteristics | Patients with TSC1 mutation N = 196 | Patients with TSC2 mutationN = 654 | Odds ratio (95% CI) | p-value |
|---|---|---|---|---|
| Past history of renal angiomyolipoma | 63 (33.0) | 373 (57.5) | 2.8 (2.0, 3.9) | <0.0001 |
| Male | 28 (44.4) | 169 (45.3) | – | – |
| Female | 35 (55.6) | 204 (54.7) | – | – |
| Median (range) age at angiomyolipoma diagnosis, years | 21 (<1–60) | 9 (<1–59) | – | 0.0035 |
| Renal angiomyolipoma ongoing during the studya | 61 (93.8) | 362 (96.5) | ||
| Multiple | 41 (67.2) | 334 (92.3) | 6.1 (3.1, 11.8) | <0.0001 |
| Bilateral | 29 (47.5) | 315 (87.0) | 8.1 (4.4, 14.7) | <0.0001 |
| Lesion >3 cm | 7 (11.5) | 113 (31.2) | 3.6 (1.6, 8.2) | 0.0013 |
| Growing | 7 (11.5) | 85 (23.5) | 2.9 (1.2, 7.2) | 0.0150 |
| Renal angiomyolipoma signs and symptomsb | ||||
| None | 55 (90.2) | 301 (83.1) | 0.6 (0.2, 1.3) | 0.1881 |
| Elevated blood pressure | 4 (6.6) | 23 (6.4) | 0.9 (0.3, 2.8) | 0.9098 |
| Haematuria (blood in urine) | 0 | 14 (3.9) | NE | 0.1234 |
| Hemorrhage | 0 | 19 (5.2) | NE | 0.0709 |
| Impaired renal function | 1 (1.6) | 10 (2.8) | 1.7 (0.2, 13.2) | 0.6297 |
| Pain | 2 (3.3) | 24 (6.6) | 2.0 (0.5, 8.8) | 0.3335 |
| Other | 0 | 9 (2.5) | NE | 0.2195 |
| Treatment received for renal angiomyolipomaa,c | 9 (13.8) | 103 (27.5) | – | p < 0.0801 |
| mTOR inhibitor | 4 (44.4) | 56 (54.4) | 1.5 (0.4, 5.9) | 0.5670 |
| Embolization | 2 (22.2) | 41 (39.8) | 2.3 (0.5, 11.7) | 0.2983 |
| Nephrectomy | 3 (33.3) | 23 (22.3) | 0.6 (0.1, 2.5) | 0.4534 |
| Resection | 1 (11.1) | 6 (5.8) | 0.5 (0.1, 4.6) | 0.5299 |
| Dialysis | 0 | 1 (1.0) | NE (NE) | 0.7665 |
| Other | 0 | 3 (2.9) | NE (NE) | 0.6038 |
CI, confidence interval; mTOR, mammalian target of rapamycin; TSC, tuberous sclerosis complex.
Values are expressed as n (%) unless otherwise specified.
a
Percentages calculated based on denominator of patients with history of renal angiomyolipoma.
b
Percentages calculated from number of patients with renal angiomyolipoma ongoing during the study.
c
Treatment received as monotherapy or polytherapy.