supplemental table 1 · web viewbmd (femoral neck) (gm/cm2) 0.478 n/a 0.754 0.777 (2018-5-11) 1.278...
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Supplemental Table 1. Clinical and Biochemical Results
-2Ⅱ -3Ⅱ -5Ⅱ -7Ⅱ -3Ⅲ -6Ⅲ -9Ⅲ -11Ⅲ -12Ⅲ -13Ⅲ -6Ⅳ
Age (yr) 71 61 50 46 45 35 27 24 24 15 4
Gender M F F M F M F M M M F
Lower leg weakness Yes No Yes Yes Yes No Yes No No No No
Bow leg Yes No Yes Yes No No No No No No No
Abnormal gait Yes No Yes Yes No No No No No No No
Bone fractures No No No Yes No No No No No No No
Height(cm) 150 N/A 143 145 155 N/A 145 N/A N/A N/A 85
Body weight (kg) 41 N/A 47 40 53 N/A 57 N/A N/A N/A 13.5
BMD (L1–L4) (gm/cm2) 1.592 N/A 1.169 1.848
(2018-5-11)1.668
(2019-7-22)
N/A N/A N/A N/A N/A N/A N/A
T /Z values of L1-L4 4.1/5.4 N/A 0.5/1.9 6.4/7.5
(2018-5-11)
4.9/5.9
(2019-7-22)
N/A N/A N/A N/A N/A N/A N/A
BMD (femoral neck)
(gm/cm2)
0.478 N/A 0.754 0.777
(2018-5-11)
1.278
(2019-7-22)
N/A N/A N/A N/A N/A N/A N/A
T /Z values of femoral
neck
-3.8/-2.2 N/A -1.5/-0.2 -1.5/-0.6
(2018-5-11)
2.3/3.3
(2019-7-22)
N/A N/A N/A N/A N/A N/A N/A
Phosphate (mmol/L)
(adults:0.81-1.45;
children: 1.45-2.10)
N/A N/A N/A 0.69 0.67 N/A 0.79 N/A N/A N/A 1.76
Calcium (mmol/L) (2.1-
2.7)
N/A N/A N/A 2.15 2.16 N/A 2.23 N/A N/A N/A 2.46
PTH (pmol/L) (1.6-6.9) N/A N/A N/A 7.91 17.54 N/A 12.88 N/A N/A N/A 4.68
25(OH)D3 (g/mL) (47.7-
144)
N/A N/A N/A 33.05 47.82 N/A 23.78 N/A N/A N/A 39.67
B-ALP (g/L) 11.4-24.6) N/A N/A N/A 50.55 11.59 N/A 17.88 N/A N/A N/A 66.42
CTx (ng/mL) (0.30- N/A N/A N/A 1.04 0.52 N/A 0.619 N/A N/A N/A 1.88
0.584)
FGF23 (pg/mL) (15-55) 164 27 94 112 68 42 86 48 53 32 30
TRP (%) (80-95) N/A N/A N/A 88 82 N/A 92 N/A N/A N/A 95
TmPO4/GFR (mg/dL)
(2.2-4.2)
N/A N/A N/A 1.87 1.70 N/A 2.28 N/A N/A N/A 5.16
Abbreviation: N/A, not applicable; BMD, bone mineral density; PTH, parathyroid hormone; B-ALP, bone-specific alkaline phosphatase; CTx, type I collagen C-
telopeptide; TRP, tubular reabsorption of phosphate; TmPO4/GFR, renal threshold phosphate concentration
Supplementary Figure 1. X-rays of the Ⅱ-2 (a-c) and Ⅱ-5 (d-f).
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