Table 1.
Baseline demographic, clinical characteristics and radiographic features of 69 (N=69) nitisinone, 69 (N=69) control as well as in all 138 patients with alkaptonuria enrolled in the Suitability of Nitisinone in Alkaptonuria 2 study. Homogentisic acid (HGA), clinical Alkaptonuria Severity Score Index (cAKUSSI). Spine pain, osteoarticular disease in spine, kyphosis, scoliosis, eye ochronosis and ear ochronosis values are presented as individual cAKUSSI subscores
| Nitisinone | Control | Total | |||||||
| All | Male | Female | All | Male | Female | All | Male | Female | |
| Patient number | N=69 | N=45 | N=24 | N=69 | N=40 | N=29 | N=138 | N=85 | N=53 |
| Age (years) | 49 (11.3) | 47.4 (11.9) | 51.9 (9.6) | 47.6 (10.1) | 48.1 (9.9) | 46.9 (10.5) | 48.3 (10.7) | 47.7 (10.9) | 49.2 (10.3) |
| Height (cm) | 166.3 (9.2) | 170.3 (7.1)*** | 158.6 (7.9) | 167 (9.5) | 172.5 (7.6)*** | 160.1 (6.8) | 166.8 (9.4) | 171.3 (7.4)*** | 159.4 (7.3) |
| Weight (kg) | 74.8 (14.8) | 79.2 (12.6)*** | 66.3 (15.1) | 74.1 (15.6) | 80.4 (13.3)*** | 65.6 (14.6) | 74.4 (15.1) | 79.8 (12.9)*** | 65.9 (14.7) |
| Body mass index (kg/m2) | 27 (4.4) | 27.3 (4.2) | 26.2 (4.8) | 26.4 (4.6) | 27.0 (4.1) | 25.5 (5.1) | 26.7 (4.5) | 27.2 (4.2) | 25.8 (4.9) |
| Serum HGA (mmol/L) | 30.3 (11) | 31.7 (11.2) | 27.9 (10.4) | 28.3 (8.7) | 29.1 (7.7) | 27.1 (9.8) | 29.3 (9.9) | 30.4 (9.7) | 27.5 (10.0) |
| Urinary HGA24 (mmol) | 3.5 (1.3) | 3.7 (1.3) | 3.1 (1.3) | 3.5 (1.4) | 3.9 (1.2)* | 3.1 (1.5) | 3.5 (1.3) | 3.8 (1.2)** | 3.1 (1.4) |
| cAKUSSI | 87 (34.2) | 90.9 (35.1) | 79.8 (31.9) | 80.5 (33.4) | 87.1 (31.2) | 71.3 (34.7) | 83.8 (33.8) | 89.1 (33.2)* | 75.2 (33.4) |
| mAKUSSI | 56.7 (26.7) | 60.2 (28.8) | 50.3 (21.3) | 54.1 (25) | 58.3 (25.1) | 48.5 (24.0) | 55.4 (25.8) | 59.2 (27.0)* | 49.3 (22.6) |
| Spinal stenosis | 3.8 (2.1) | 3.8 (2.1) | 3.8 (2.2) | 3.5 (2.3) | 3.7 (2.2) | 3.1 (2.4) | 3.6 (2.2) | 3.7 (2.1) | 3.4 (2.3) |
| Calcifications | 2.9 (1.8) | 3.0 (1.9) | 2.7 (1.8) | 2.6 (1.8) | 2.8 (1.7) | 2.4 (1.9) | 2.8 (1.8) | 2.9 (1.8) | 2.5 (1.8) |
| Vacuum phenomena | 2.3 (1.9) | 2.4 (2.0) | 2.3 (1.6) | 1.9 (1.6) | 2.0 (1.5) | 1.8 (1.7) | 2.1 (1.7) | 2.2 (1.8) | 2.0 (1.7) |
| Osteophytes/hyperostosis | 3.1 (2.1) | 3.1 (2.1) | 3.1 (2.1) | 2.8 (2.1) | 3.1 (2.1) | 2.5 (2.2) | 3.0 (2.1) | 3.1 (2.1) | 2.8 (2.2) |
| Fusions | 0.6 (1.1) | 0.5 (0.9) | 0.8 (1.4) | 0.5 (1.1) | 0.4 (0.8) | 0.7 (1.3) | 0.5 (1.1) | 0.4 (0.9) | 0.7 (1.3) |
| Spine pain | 4.6 (2.7) | 4.4 (2.7) | 5.0 (2.8) | 4.7 (2.4) | 4.3 (2.3) | 5.2 (2.5) | 4.7 (2.5) | 4.4 (2.5) | 5.1 (2.6) |
| Osteoarticular disease spine | 13.6 (8.5) | 13.7 (8.6) | 13.5 (8.6) | 12.1 (8.5) | 12.1 (8.1) | 12.1 (9.2) | 12.9 (8.5) | 12.9 (8.4) | 12.8 (8.9) |
| Kyphosis | 0.7 (1.4) | 0.5 (1.3) | 1.0 (1.4) | 0.5 (1.2) | 0.3 (0.9) | 0.7 (1.5) | 0.6 (1.3) | 0.4 (1.1) | 0.9 (1.5) |
| Scoliosis | 2.0 (0.7) | 1.9 (0.5) | 2.2 (1.0) | 2.0 (0.6) | 2.1 (0.7) | 2.0 (0.5) | 2.0 (0.7) | 2.0 (0.6) | 2.1 (0.8) |
| Eye ochronosis | 17.3 (9.2)# | 17.3 (8.9) | 17.2 (9.8)# | 14.1 (9.6) | 15.8 (9.7) | 11.7 (9.1) | 15.7 (9.5) | 16.6 (9.3) | 14.2 (9.7) |
| Ear ochronosis | 4.1 (3.0) | 4.2 (2.9) | 4.1 (3.1) | 3.9 (2.9) | 4.2 (2.7) | 3.5 (3.1) | 4.0 (2.9) | 4.2 (2.8) | 3.8 (3.1) |
Male versus female comparison *p<0.05, **p<0.01, ***p<0.001. Modified Alkaptonuria Severity Score Index (mAKUSSI).
mAKUSSI, Modified Alkaptonuria Severity Score Index.