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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]
  1. M male, F female, h hour, d day, m month, y year, ALP alkaline phosphatase, Ca calcium, P phosphate, 25(OH)D3 25-hydroxyvitamin vitamin D3, i-PTH intact parathyroid hormone, Ca/Cr calcium/creatinine, Ref reference, NA not applicable, H high, L low. ↓ represents the value was below the normal range; ↑ represents the value was above the normal range
  2. Urine Ca/Cr and the blood biochemical parameters, including serum ALP, Ca, P, 25(OH)D3 and i-PTH were measured spectrophotometrically using routine assays in the central laboratory of Beijing Children’s Hospital, Capital Medical University. The normal range for serum ALP, Ca, P, 25 (OH) D3, PTH and urinary Ca/Cr were 58–400 U/L, 2.00–2.75 mmol/L, 1.10–1.80 mmol/L, 19.0–57.6 ng/mL, 10–69 pg/mL, 0.00–0.20, respectively