Table 1.
Baseline characteristics of the study cohort.
| All | T50 Tertile 1 (<316 min) |
T50 Tertile 2 (316–368 min) |
T50 Tertile 3 (>368 min) |
Tertile Comp. p Value |
Correlation Coefficient |
Correlation p Value |
|
|---|---|---|---|---|---|---|---|
| Number of participants, n | 57 | 19 | 19 | 19 | |||
| Age (years) | 45.2 ± 15.7 | 50.7 ± 12.0 | 43 ± 15.5 | 41.9 ± 18.3 | 0.17 | −0.28 | 0.033 * |
| Sex, % female (n) | 68.4 (39) | 52.6 (10) | 94.7 (18) | 57.9 (11) | 0.010 * | −0.01 | 0.94 |
| Current smoking, % (n) | 14.0 (8) | 15.8 (3) | 21.1 (4) | 5.3 (1) | 0.36 | −0.16 | 0.25 |
| Arterial hypertension, % (n) | 17.5 (10) | 21.1 (4) | 15.8 (3) | 15.8 (3) | 0.89 | −0.03 | 0.85 |
| Hypercholesterolemia, % (n) | 56.1 (32) | 52.6 (10) | 68.4 (13) | 47.4 (9) | 0.40 | −0.06 | 0.64 |
| Diabetes mellitus, % (n) | 1.8 (1) | 5.3 (1) | 0 (0) | 0 (0) | 0.36 | −0.17 | 0.20 |
| Body mass index (BMI) (kg/m2) | 25.4 ± 5.0 | 25.3 ± 5.8 | 26.1 ± 4.7 | 24.9 ± 4.6 | 0.78 | −0.15 | 0.26 |
| Serum calcium (mmol/L) | 2.38 ± 0.11 | 2.38 ± 0.10 | 2.38 ± 0.11 | 2.37 ± 0.13 | 0.90 | 0.004 | 0.98 |
| Serum magnesium (mmol/L) | 0.84 ± 0.06 | 0.84 ± 0.06 | 0.82 ± 0.07 | 0.87 ± 0.04 | 0.051 | 0.20 | 0.14 |
| Serum phosphorus (mmol/L) | 1.12 ± 0.17 | 1.18 ± 0.20 | 1.12 ± 0.14 | 1.05 ± 0.13 | 0.043 * | −0.34 | 0.009 * |
| Serum creatinine (mg/dL) | 0.82 ± 0.15 | 0.81 ± 0.18 | 0.78 ± 0.13 | 0.87 ± 0.15 | 0.26 | 0.13 | 0.35 |
| eGFR (ml/min/1.73 m2) | 95.4 ± 20.2 | 94.5 ± 18.0 | 95.8 ± 23.5 | 96.0 ± 20.0 | 0.97 | 0.11 | 0.41 |
| Serum alkaline phosphatase (U/L) | 70.5 ± 19.2 | 69.0 ± 16.4 | 71.4 ± 19.7 | 71.1 ± 21.9 | 0.92 | 0.09 | 0.50 |
| Serum fetuin-A (µg/mL) | 17.0 ± 3.1 | 15.3 ± 1.7 | 16.8 ± 3.2 | 18.8 ± 3.2 | 0.001 * | 0.44 | <0.001 * |
| Plasma inorganic pyrophosphate (PPi) (µmol/L) | 0.50 ± 0.16 | 0.53 ± 0.17 | 0.51 ± 0.17 | 0.46 ± 0.15 | 0.35 | −0.15 | 0.26 |
| Phenodex score | |||||||
| Skin (S) | 2 (1.5–2) | 2 (2–2) | 2 (2–2) | 2 (1–2) | 0.69 | −0.11 | 0.40 |
| Eye (E) | 2 (2–3) | 3 (2–3) | 2 (2–2.5) | 2 (2–2) | 0.041 * | −0.47 | <0.001 * |
| Vascular (V) | 1 (0–1) | 1 (1–1) | 0 (0–1) | 0 (0–1) | 0.093 | −0.38 | 0.003 * |
| Cardiac (C) | 0 (0–0) | 0 (0–0) | 0 (0–0) | 0 (0–0) | 0.35 | −0.12 | 0.36 |
| Gastrointestinal (G) | 0 (0–0) | 0 (0–0) | 0 (0–0) | 0 (0–0) | NA | NA | NA |
| Renal (R) | 0 (0–1) | 0 (0–1) | 0 (0–0.5) | 0 (0–0.75) | 0.67 | −0.09 | 0.51 |
| Cumulative (Cu) | 5 (4–7) | 6.5 (6–7) | 5 (4–5.5) | 4 (3.25–5) | 0.014 * | −0.47 | <0.001 * |
| ABCC6 genotype | 0.93 | −0.03 | 0.86 | ||||
| LOF + missense, % (n) | 42.1 (24) | 36.8 (7) | 52.6 (10) | 36.8 (7) | NA | NA | NA |
| Missense + missense, % (n) | 15.8 (9) | 15.8 (3) | 15.8 (3) | 15.8 (3) | NA | NA | NA |
| LOF + LOF, % (n) | 26.3 (15) | 31.6 (6) | 15.8 (3) | 31.6 (6) | NA | NA | NA |
| Other (single or splice), % (n) | 15.8 (9) | 15.8 (3) | 15.8 (3) | 15.8 (3) | NA | NA | NA |
| cIMT (mm) (n = 16) | 0.64 ± 0.12 | 0.75 ± 0.13 | 0.63 ± 0.11 | 0.56 ± 0.08 | 0.068 | −0.57 | 0.022 * |
| cfPWV (m/s) (n = 14) | 8.7 ± 2.4 | 11.2 ± 1.8 | 9.0 ± 2.5 | 7.0 ± 1.08 | 0.11 | −0.61 | 0.020 * |
| CT calcium score (Agatston units) (n = 14) | 542 (4–2189) |
1091 (496–4537) |
524 (260–5001) |
2 (0–724) |
0.45 | −0.45 | 0.10 |
Demographic, clinical, imaging and biochemical data from all PXE patients (n = 57) included in the study are shown, stratified by T50 tertile. cfPWV—carotid–femoral pulse wave velocity; cIMT—carotid intima–media thickness; comp.—comparison; CT—computed tomography; eGFR—estimated glomerular filtration rate; LOF—loss-of-function variants. * p < 0.05.