Table 1 Clinical and biochemical features of Chinese children with HPP
From: Clinical and genetic characteristics of hypophosphatasia in Chinese children
Disease subtype | No | Gender | Age of onset/diagnosis | Height (cm) | Weight (kg) | Early deciduous tooth loss | Bone deformity | Epilepsies | Nephrocalcinosis |
|---|---|---|---|---|---|---|---|---|---|
Perinatal lethal | 1 | M | 2 h/2 h | 47.0 (3th) | 3.56 (50th–75th) | − | + | + | − |
2 | M | 12 h/12 h | 45.0 (< 3th) | 2.80 (10th–25th) | − | + | − | − | |
Infantile | 3 | M | 0.5 m/2.5 m | 60.0 (25th–50th) | 5 (10th) | − | + | − | + |
4 | F | 1 m/5 m | 63.0 (10th–25th) | 4.3 (< 3th) | − | + | − | + | |
5 | M | 2 m/4 m | 57.0 (< 3th) | 5.0 (< 3th) | − | + | − | + | |
6 | M | 1 m/3 m | 53.0 (< 3th) | 3.6 (< 3th) | − | + | − | + | |
7 | M | 1 m/3 m | 56.0 (< 3th) | 4.1 (< 3th) | − | + | − | + | |
8 | F | 1 m/3 m | 54.0 (< 3th) | 3.7 (< 3th) | − | + | − | + | |
9 | M | 1 d/2 m | < 10th | NA | − | + | + | − | |
10 | M | 1 m/5 m | 56.0 (< 3th) | 2.59 (< 3th) | − | + | − | − | |
11 | F | NA/4 m | 54.0 (< 10th) | 4.23 (< 10th) | − | + | − | + | |
12 | M | 2 m/4 m | 58.0 (< 3th) | 5.7 (< 3th) | − | + | − | + | |
Childhood | 13 | M | 1 y/6 y+5 m | NA | 22.0 (25th–50th) | − | + | − | − |
14 | F | 1 y/2 y + 5 m | 50th | NA | + | + | − | − | |
15 | M | 1 y/8 y | 25th–50th | NA | + | + | − | − | |
16 | F | 8 m/8 y | 118 (3th) | 21 (10th) | + | + | − | − | |
17 | M | 1 y/15 y | 160.5 (3th–10th) | NA | + | + | − | − | |
18 | F | NA/5 y | 50th | 50th | + | + | − | − | |
19 | M | NA/5.5 y | NA | NA | + | + | − | − | |
20 | M | NA/18 m | NA | NA | + | + | − | − | |
21 | F | 2 y/19 y | 137.0 (< 3th) | 35.0 (< 3th) | + | + | − | − | |
22 | M | 2 y/8 y | NA | NA | + | + | − | − | |
Odonto | 23 | M | 12 m/14 m | NA | NA | + | − | − | − |
24 | M | NA/1 y + 9 m | 93.0 (> 97th) | 14.9 (50th–75th) | + | − | − | − | |
25 | M | 11 m/14 m | 79.0 (50th–75th) | 10 (25th–50th) | + | − | − | − | |
26 | M | 1.5 y/4 y | 25th–50th | NA | + | − | − | − | |
27 | M | 1.3 y/2.3 y | 95.0 (75th–90th) | 14.0 (50th–75th) | + | − | − | − | |
28 | F | 1 y/6 y | 111.4 (10th–25th) | 19 (25th–50th) | + | − | − | − | |
29 | M | 1 y/2 y | NA | NA | + | − | − | − | |
30 | M | 1 y/16 y | NA | NA | + | − | − | − | |
31 | M | NA/14 y | NA | NA | + | − | − | − | |
32 | M | NA/6 y | NA | NA | + | − | − | − | |
33 | F | NA/18 m | NA | NA | + | − | − | − |
Disease subtype | No | Gender | Serum ALP (U/L) | Serum Ca (mmol/L) | Serum P (mmol/L) | Serum 25(OH)D3 (ng/mL) | Serum i-PTH (pg/mL) | Urinary Ca/Cr | Prognosis | References |
|---|---|---|---|---|---|---|---|---|---|---|
Perinatal lethal | 1 | M | < 5 ↓ | Normal | Normal | NA | NA | NA | Die | [31] |
2 | M | < 5 ↓ | 2.2 | 2.78 ↑ | NA | 33.4 | NA | Die | [32] | |
Infantile | 3 | M | 26 ↓ | 3.46 ↑ | 1.92 ↑ | 19.0 | 12.8 | 0.19 | NA | PA-1 |
4 | F | 7 ↓ | 2.80 ↑ | 1.38 | Normal | 2.7 ↓ | 1.25 ↑ | Die | PA-2 | |
5 | M | 6 ↓ | 4.22 ↑ | 1.41 | Normal | 2.5 ↓ | 2.95↑ | Die | PA-3 | |
6 | M | 16 ↓ | 3.87 ↑ | 1.41 | 19.0 | < 1 ↓ | 2.35 ↑ | NA | PA-4 | |
7 | M | 5 ↓ | 3.07 ↑ | 1.23 | 34.0 | < 1 ↓ | 2.26 ↑ | Die | PA-5 | |
8 | F | 23 ↓ | 4.37 ↑ | 1.31 | 24.4 | < 1 ↓ | 1.51 ↑ | Die | PA-6 | |
9 | M | 5 ↓ | 3.10 ↑ | 2.10 ↑ | NA | 2.91 ↓ | NA | Die | [5] | |
10 | M | 9 ↓ | 3.19 ↑ | Normal | NA | 3.5 ↓ | NA | NA | [33] | |
11 | F | 12 ↓ | 2.90 ↑ | 1.52 | NA | 10.36 | 2.70 ↑ | Die | [34] | |
12 | M | 25 ↓ | 3.33 ↑ | 1.34 | Normal | < 1 ↓ | NA | Die | [35] | |
Childhood | 13 | M | 36 ↓ | 2.19 | 2.23 ↑ | NA | 10 | NA | Live | PA-7 |
14 | F | 42 ↓ | 2.40 | 2.0 ↑ | Normal | 2.91 ↓ | NA | Live | [5] | |
15 | M | 67 ↓ | 2.5 | 1.7 | Normal | 14.19 | NA | Live | [5] | |
16 | F | 6 ↓ | 2.68 | 1.96 ↑ | 30.7 | 12.6 | NA | Live | [6] | |
17 | M | 26 ↓ | 2.48 | 1.89 ↑ | Normal | 8 ↓ | NA | Live | [6] | |
18 | F | 61 ↓ | 2.47 | 1.96 ↑ | 26.64 | 9.67 ↓ | NA | Live | [36] | |
19 | M | 27 ↓ | NA | NA | NA | NA | NA | Live | [37] | |
20 | M | 38 ↓ | NA | NA | NA | NA | NA | Live | [37] | |
21 | F | 6 ↓ | 2.55 | 1.33 | 5.4 ↓ | 17.62 | NA | Live | [38] | |
22 | M | 27 ↓ | Normal | Normal | Normal | NA | NA | Live | [39] | |
Odonto | 23 | M | 31 ↓ | 2.25 | 1.79 | 24.1 | 37.7 | 0.33 ↑ | Live | PA-8 |
24 | M | 73 ↓ | 2.54 | 2.11 ↑ | NA | 22.4 | NA | Live | PA-9 | |
25 | M | 11 ↓ | 2.45 | 2.00 ↑ | Normal | 4.0↓ | 0.84 ↑ | Live | PA-10 | |
26 | M | 42 ↓ | 2.2 | 1.66 | Normal | 3.27 ↓ | NA | Live | [5] | |
27 | M | 16 ↓ | NA | Normal | ↓ | 10.9 | NA | Live | [40] | |
28 | F | 22 ↓ | 2.45 | 2.03 ↑ | NA | 8.00 ↓ | NA | Live | [6] | |
29 | M | 29 ↓ | 2.77 ↑ | 2.24 ↑ | NA | 16.6 | NA | Live | [6] | |
30 | M | 17 ↓ | 2.52 | 1.82 ↑ | Normal | 54 | NA | Live | [6] | |
31 | M | 41.5 ↓ | Normal | 2.08 ↑ | ↓ | Normal | NA | Live | [41] | |
32 | M | 43.4 ↓ | Normal | 1.97 | ↓ | Normal | NA | Live | [41] | |
33 | F | 7 ↓ | NA | NA | NA | NA | NA | Live | [37] |