| . | RI, adults . | All . | Male . | Female . |
|---|---|---|---|---|
| N | 33 | 16 | 17 | |
| Age, y | 39 (18-72) | 41 (18-63) | 37 (21-72) | |
| Height, SD | −1.8 (−5.1 to 1.8) | −1.5 (−5.1 to 1.0) | −2.1 (−4.7 to 1.8) | |
| Mutation type | ||||
| NMD sensitive, n (%) | 7 (21) | 4 (25) | 3 (18) | |
| NMD insensitive, n (%) | 17 (52) | 6 (38) | 11 (64) | |
| Not applicable, n (%) | 4 (12) | 3 (19) | 1 (6) | |
| Mutation not detected, n (%) | 5 (15) | 3 (19) | 2 (12) | |
| Current treatment | ||||
| Burosumab, n (%) | 4 (12) | 2 (13) | 2 (12) | |
| Conventional treatment, n (%) | 27 (82) | 13 (81) | 14 (82) | |
| None, n (%) | 2 (6) | 1 (6) | 1 (6) | |
| Biochemical data | ||||
| Serum FGF23, pg/mL | 10.0-50.0 | 94.6 (48.9-2890.0) | 118.8 (54.0-1574.5) | 80.0 (48.9-2890.0) |
| Serum phosphate, mg/dL | 2.7-4.6 | 2.1 (1.4-3.7) | 2.2 (1.4-3.4) | 2.1 (1.6-3.7) |
| Serum calcium, mg/dL | 8.8-10.1 | 9.0 (7.5-10.8) | 9.2 (7.5-10.8) | 8.9 (8.5-10.0) |
| Ectopic ossifications | ||||
| OALL, n (%) | 21 (64) | 11 (69) | 10 (59) | |
| OPLL, n (%) | 11 (33) | 4 (25) | 7 (41) | |
| OYL, n (%) | 26 (79) | 11 (69) | 15 (88) | |
| Osteophytes around hip joints, n (%) | 32 (97) | 15 (94) | 17 (100) | |
| Osteophytes around knee joints, n (%) | 23 (70) | 12 (75) | 11 (65) | |
| OA index | 2 (0-24) | 2 (0-24) | 1 (0-15) | |
| OP index | 0 (0-15) | 0 (0-9) | 0 (0-15) | |
| OY index | 7 (0-16) | 6 (0-10) | 8 (0-16) | |
| OS index | 12 (0-42) | 7 (0-42) | 12 (0-38) | |
| Hip KL grade | 3 (1-4) | 3 (1-4) | 3 (2-4) | |
| Knee KL grade | 2 (0-4) | 2 (0-4) | 2 (0-4) | |
| Leg deformity | ||||
| Valgus deformity, n (%) | 6 (18) | 3 (19) | 3 (18) | |
| Varus deformity, n (%) | 14 (42) | 8 (50) | 6 (35) |
| . | RI, adults . | All . | Male . | Female . |
|---|---|---|---|---|
| N | 33 | 16 | 17 | |
| Age, y | 39 (18-72) | 41 (18-63) | 37 (21-72) | |
| Height, SD | −1.8 (−5.1 to 1.8) | −1.5 (−5.1 to 1.0) | −2.1 (−4.7 to 1.8) | |
| Mutation type | ||||
| NMD sensitive, n (%) | 7 (21) | 4 (25) | 3 (18) | |
| NMD insensitive, n (%) | 17 (52) | 6 (38) | 11 (64) | |
| Not applicable, n (%) | 4 (12) | 3 (19) | 1 (6) | |
| Mutation not detected, n (%) | 5 (15) | 3 (19) | 2 (12) | |
| Current treatment | ||||
| Burosumab, n (%) | 4 (12) | 2 (13) | 2 (12) | |
| Conventional treatment, n (%) | 27 (82) | 13 (81) | 14 (82) | |
| None, n (%) | 2 (6) | 1 (6) | 1 (6) | |
| Biochemical data | ||||
| Serum FGF23, pg/mL | 10.0-50.0 | 94.6 (48.9-2890.0) | 118.8 (54.0-1574.5) | 80.0 (48.9-2890.0) |
| Serum phosphate, mg/dL | 2.7-4.6 | 2.1 (1.4-3.7) | 2.2 (1.4-3.4) | 2.1 (1.6-3.7) |
| Serum calcium, mg/dL | 8.8-10.1 | 9.0 (7.5-10.8) | 9.2 (7.5-10.8) | 8.9 (8.5-10.0) |
| Ectopic ossifications | ||||
| OALL, n (%) | 21 (64) | 11 (69) | 10 (59) | |
| OPLL, n (%) | 11 (33) | 4 (25) | 7 (41) | |
| OYL, n (%) | 26 (79) | 11 (69) | 15 (88) | |
| Osteophytes around hip joints, n (%) | 32 (97) | 15 (94) | 17 (100) | |
| Osteophytes around knee joints, n (%) | 23 (70) | 12 (75) | 11 (65) | |
| OA index | 2 (0-24) | 2 (0-24) | 1 (0-15) | |
| OP index | 0 (0-15) | 0 (0-9) | 0 (0-15) | |
| OY index | 7 (0-16) | 6 (0-10) | 8 (0-16) | |
| OS index | 12 (0-42) | 7 (0-42) | 12 (0-38) | |
| Hip KL grade | 3 (1-4) | 3 (1-4) | 3 (2-4) | |
| Knee KL grade | 2 (0-4) | 2 (0-4) | 2 (0-4) | |
| Leg deformity | ||||
| Valgus deformity, n (%) | 6 (18) | 3 (19) | 3 (18) | |
| Varus deformity, n (%) | 14 (42) | 8 (50) | 6 (35) |
Values are reported as median (range).
Abbreviations: FGF, fibroblast growth factor; KL; Kellgren-Lawrence; NMD, nonsense-mediated messenger RNA decay; OA index, ossification of the anterior longitudinal ligament index; OALL, ossification of the anterior longitudinal ligament; OP, ossification of the posterior longitudinal ligament index; OPLL, ossification of the posterior longitudinal ligament; OS index, ossification index; OY index, ossification of the yellow ligament index; OYL, ossification of the yellow ligament; RI, reference interval.
| . | RI, adults . | All . | Male . | Female . |
|---|---|---|---|---|
| N | 33 | 16 | 17 | |
| Age, y | 39 (18-72) | 41 (18-63) | 37 (21-72) | |
| Height, SD | −1.8 (−5.1 to 1.8) | −1.5 (−5.1 to 1.0) | −2.1 (−4.7 to 1.8) | |
| Mutation type | ||||
| NMD sensitive, n (%) | 7 (21) | 4 (25) | 3 (18) | |
| NMD insensitive, n (%) | 17 (52) | 6 (38) | 11 (64) | |
| Not applicable, n (%) | 4 (12) | 3 (19) | 1 (6) | |
| Mutation not detected, n (%) | 5 (15) | 3 (19) | 2 (12) | |
| Current treatment | ||||
| Burosumab, n (%) | 4 (12) | 2 (13) | 2 (12) | |
| Conventional treatment, n (%) | 27 (82) | 13 (81) | 14 (82) | |
| None, n (%) | 2 (6) | 1 (6) | 1 (6) | |
| Biochemical data | ||||
| Serum FGF23, pg/mL | 10.0-50.0 | 94.6 (48.9-2890.0) | 118.8 (54.0-1574.5) | 80.0 (48.9-2890.0) |
| Serum phosphate, mg/dL | 2.7-4.6 | 2.1 (1.4-3.7) | 2.2 (1.4-3.4) | 2.1 (1.6-3.7) |
| Serum calcium, mg/dL | 8.8-10.1 | 9.0 (7.5-10.8) | 9.2 (7.5-10.8) | 8.9 (8.5-10.0) |
| Ectopic ossifications | ||||
| OALL, n (%) | 21 (64) | 11 (69) | 10 (59) | |
| OPLL, n (%) | 11 (33) | 4 (25) | 7 (41) | |
| OYL, n (%) | 26 (79) | 11 (69) | 15 (88) | |
| Osteophytes around hip joints, n (%) | 32 (97) | 15 (94) | 17 (100) | |
| Osteophytes around knee joints, n (%) | 23 (70) | 12 (75) | 11 (65) | |
| OA index | 2 (0-24) | 2 (0-24) | 1 (0-15) | |
| OP index | 0 (0-15) | 0 (0-9) | 0 (0-15) | |
| OY index | 7 (0-16) | 6 (0-10) | 8 (0-16) | |
| OS index | 12 (0-42) | 7 (0-42) | 12 (0-38) | |
| Hip KL grade | 3 (1-4) | 3 (1-4) | 3 (2-4) | |
| Knee KL grade | 2 (0-4) | 2 (0-4) | 2 (0-4) | |
| Leg deformity | ||||
| Valgus deformity, n (%) | 6 (18) | 3 (19) | 3 (18) | |
| Varus deformity, n (%) | 14 (42) | 8 (50) | 6 (35) |
| . | RI, adults . | All . | Male . | Female . |
|---|---|---|---|---|
| N | 33 | 16 | 17 | |
| Age, y | 39 (18-72) | 41 (18-63) | 37 (21-72) | |
| Height, SD | −1.8 (−5.1 to 1.8) | −1.5 (−5.1 to 1.0) | −2.1 (−4.7 to 1.8) | |
| Mutation type | ||||
| NMD sensitive, n (%) | 7 (21) | 4 (25) | 3 (18) | |
| NMD insensitive, n (%) | 17 (52) | 6 (38) | 11 (64) | |
| Not applicable, n (%) | 4 (12) | 3 (19) | 1 (6) | |
| Mutation not detected, n (%) | 5 (15) | 3 (19) | 2 (12) | |
| Current treatment | ||||
| Burosumab, n (%) | 4 (12) | 2 (13) | 2 (12) | |
| Conventional treatment, n (%) | 27 (82) | 13 (81) | 14 (82) | |
| None, n (%) | 2 (6) | 1 (6) | 1 (6) | |
| Biochemical data | ||||
| Serum FGF23, pg/mL | 10.0-50.0 | 94.6 (48.9-2890.0) | 118.8 (54.0-1574.5) | 80.0 (48.9-2890.0) |
| Serum phosphate, mg/dL | 2.7-4.6 | 2.1 (1.4-3.7) | 2.2 (1.4-3.4) | 2.1 (1.6-3.7) |
| Serum calcium, mg/dL | 8.8-10.1 | 9.0 (7.5-10.8) | 9.2 (7.5-10.8) | 8.9 (8.5-10.0) |
| Ectopic ossifications | ||||
| OALL, n (%) | 21 (64) | 11 (69) | 10 (59) | |
| OPLL, n (%) | 11 (33) | 4 (25) | 7 (41) | |
| OYL, n (%) | 26 (79) | 11 (69) | 15 (88) | |
| Osteophytes around hip joints, n (%) | 32 (97) | 15 (94) | 17 (100) | |
| Osteophytes around knee joints, n (%) | 23 (70) | 12 (75) | 11 (65) | |
| OA index | 2 (0-24) | 2 (0-24) | 1 (0-15) | |
| OP index | 0 (0-15) | 0 (0-9) | 0 (0-15) | |
| OY index | 7 (0-16) | 6 (0-10) | 8 (0-16) | |
| OS index | 12 (0-42) | 7 (0-42) | 12 (0-38) | |
| Hip KL grade | 3 (1-4) | 3 (1-4) | 3 (2-4) | |
| Knee KL grade | 2 (0-4) | 2 (0-4) | 2 (0-4) | |
| Leg deformity | ||||
| Valgus deformity, n (%) | 6 (18) | 3 (19) | 3 (18) | |
| Varus deformity, n (%) | 14 (42) | 8 (50) | 6 (35) |
Values are reported as median (range).
Abbreviations: FGF, fibroblast growth factor; KL; Kellgren-Lawrence; NMD, nonsense-mediated messenger RNA decay; OA index, ossification of the anterior longitudinal ligament index; OALL, ossification of the anterior longitudinal ligament; OP, ossification of the posterior longitudinal ligament index; OPLL, ossification of the posterior longitudinal ligament; OS index, ossification index; OY index, ossification of the yellow ligament index; OYL, ossification of the yellow ligament; RI, reference interval.
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