Table 1.
Baseline patient characteristics (N = 19)
| Patient characteristics | Value |
|---|---|
| Age (years), median (IQR) | 38.0 (29.0–43.0) |
| Sex, n (%) | |
| Female | 13 (68.4) |
| Male | 6 (31.6) |
| Race, n (%) | |
| White | 19 (100) |
| Main comorbidities, n (%)a | |
| Hypertension | 3 (15.8) |
| Asthma | 2 (10.5) |
| Hypercholesterolaemia | 2 (10.5) |
| Major features for TSC diagnosis, n (%)a | |
| Renal AML | 19 (100) |
| Facial angiofibromas/forehead plaque | 15 (79.0) |
| Cortical tuber | 10 (52.6) |
| Hypomelanotic macules (≥3) | 7 (36.8) |
| Subependymal nodule | 7 (36.8) |
| Non-traumatic ungual/periungual fibroma | 4 (21.1) |
| Single/multiple cardiac rhabdomyoma | 4 (21.1) |
| Lymphangiomyomatosis | 3 (15.8) |
| Connective tissue nevus | 2 (10.5) |
| Minor features for TSC diagnosis, n (%)a | |
| Multiple renal cysts | 11 (57.9) |
| Multiple randomly distributed pits in dental enamel | 3 (15.8) |
| Bone cysts | 3 (15.8) |
| Non-renal hamartoma | 2 (10.5) |
| “Confetti” skin lesions | 1 (5.26) |
| Sum of volumes of target renal AML lesions (cm3), median (IQR) | 260.0 (127.8–322.2) |
| Volume of right kidney (cm3), median (IQR) | 329.4 (193.0–979.7)b |
| Volume of left kidney (cm3), median (IQR) | 299.0 (184.2–404.7)c |
Abbreviations: AML angiomyolipoma, IQL interquartile range, SD standard deviation, TSC tuberous sclerosis complex
aMultiple response variable
bOne patient had previously undergone nephrectomy of right kidney and two had technical problems for renal volume assessment; N = 16
cThree patients had previously undergone nephrectomy of left kidney and one had technical problems for renal volume assessment; N = 15