Table 2.
Clinical and biochemical data in patients with XLH at entry into the study, and PHEX gene mutation
| Case | Sex | Age at diagnosis, (years) | Age at entry (years) | Length/heightb (Z-score) | Serum P, (mmol/L) | TmP/GFR (mg/dL) | Serum ALP (IU/L) | Serum PTH, (pg/mL) | Serum 1,25(OH)2D, (pg/mL) | PHEX gene mutation |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | 0.08 | 0.08a | −1.7 | 1.21 | 3.7 | 586 | 47.0 | 23.2 | Fc.1255G > T |
| 2 | M | 0.1 | 0.2 | −2.0 | 1.10 | 3.2 | 724 | 31.4 | 12.2 | c.254G > T |
| 3 | M | 0.1 | 12.0 | −2.3 | 0.58 | 1.3 | 550 | 33.6 | 24.1 | Deletion ex12 |
| 4 | M | 0.1 | 14.1 | −2.2 | 0.52 | 1.7 | 589 | 51.5 | 32.2 | c.1645C > T |
| 5 | M | 0.3 | 4.6 | −2.6 | 0.68 | 1.8 | 554 | 39.5 | 34.3 | c.1529G > C |
| 6 | F | 1.0 | 17.5 | −1.6 | 0.67 | 1.6 | 199 | 69.2 | 26.0 | Fc.1255G > T |
| 7 | F | 1.1 | 8.3 | −3.4 | 0.48 | 1.4 | 463 | 26.9 | 38.7 | c.1643T > C |
| 8 | F | 1.4 | 17.8 | −2.2 | 0.68 | 2.0 | 221 | 46.8 | 24.7 | c.1616_1617delCC |
| 9 | F | 1.7 | 9.8 | −2.1 | 0.47 | 1.8 | 578 | 40.6 | 19.8 | c.1092C > A |
| 10 | F | 1.8 | 11.0 | −1.8 | 0.62 | 1.9 | 547 | 54.2 | 02.2 | c.2239C > T |
| 11 | F | 2.1 | 2.1 | −2.1 | 0.73 | 1.6 | 649 | 44.3 | 25.5 | c.1586 + 1G > A |
| 12 | F | 2.4 | 2.8 | −2.5 | 0.53 | 1.2 | 908 | 38.1 | 23.0 | deletion ex15 |
| 13 | F | 2.4 | 8.2 | −1.1 | 0.69 | 1.9 | 401 | 49.7 | 26.7 | c.1079 + 5G > A |
| 14 | F | 2.5 | 9.9 | −3.2 | 0.63 | 1.2 | 531 | 48.4 | 36.2 | c.2053_2054insCTTCT |
| 15 | M | 3.5 | 13.3 | −3.4 | 0.52 | 1.8 | 604 | 38.6 | 21.7 | c.1041_1042insT |
| 16 | M | 3.6 | 15.1 | −1.2 | 0.65 | 1.9 | 450 | 37.5 | 27.5 | c.2239C > T |
| 17 | M | 4.4 | 16.3 | −2.6 | 0.55 | 1.4 | 396 | 43.6 | 14.7 | c.118 + 1G > A |
| 18 | M | 5.5 | 9.3 | −2.3 | 0.59 | 1.4 | 477 | 55.7 | 33.5 | c.1061C > T |
| 19 | Fc | 5.9 | 15.7 | −3.0 | 0.57 | 1.5 | 465 | 52.8 | 29.4 | Deletion ex4-22 |
| 20 | Fc | 5.9 | 15.7 | −3.1 | 0.61 | 1.7 | 494 | 58.9 | 36.0 | Deletion ex4-22 |
| Mean ± SD | 2.3 ± 1.9 | 10.2 ± 5.6 | −2.3 ± 0.7 | 0.65 ± 0.18 | 1.8 ± 0.6 | 519.3 ± 152.8 | 43.6 ± 9.6 | 25.9 ± 7.0 | ||
| Normal values | d | e | f | 8–40 | 25–110 |
Familial form: case 1–7, 9, 10, 13, 16, and 18; sporadic form: case 8, 11, 12, 14, 15, 17, 19, and 20
aUntreated at entry
bLength in patients 1–10; height in patients 11–20
cHomozygous twins
dPresent study: see Table 1
e < 2 years 5.1 ± 0.5 mg/dL; 2–12 years 4.6 ± 0.6 mg/dL; 12–16 years 4.1 ± 0.6 mg/dL [29]
fUpper limit of normal: infants, 450 IU/L (case 1 and 2); prepubertal, 300 IU/L (case 5, 7, 12, and 13); pubertal, 390 IU/L (3, 4, 9, 10, 14–16, 18–20); postpubertal, 180 IU/L (cases 6, 8, and 17)