Characteristics of Participants With and Without Lesions
| Variable | Lesion (n = 20) | No lesion (n = 202) | p |
| Age (years), mean ± SD | 53.6 ± 9.1 | 49.8 ± 9.0 | .07 |
| Gender | .95 | ||
| Male, n (%) | 10 (50.0) | 90 (44.5) | |
| Female, n (%) | 10 (50.0) | 112 (55.4) | |
| Serum calcium (mmol/L), mean ± SD | 2.41 ± 0.16 | 2.40 ± 0.11 | .63 |
| Serum 25(OH)D (nmol/L), mean ± SD | 50.1 ± 26.2 | 52.2 ± 29.7 | .76 |
| Adjusted ALP (AU), mean ± SD | 0.75 ± 0.69 | 0.42 ± 0.29 | <.0001 |
| Elevated ALP, n (%) | 4/20 (20.0) | 16/198 (8.0) | .007 |
| uNTX/Cr (nM/mM), mean ± SD | 305.5 ± 808.6 | 51.9 ± 51.9 | <.0001 |
| Elevated uNTX/Cr, n (%) | 10/15 (66.6) | 5/132 (3.8) | .0075 |
| BAP (U/L), mean ± SD | 15.1 ± 12.8 | 10.4 ± 7.0 | .015 |
| Elevated BAP, n (%) | 1/17 (5.8) | 1/186 (0.5) | .16 |
| CTX (μg/L), mean ± SD | 0.44 ± 0.26 | 0.32 ± 0.15 | .004 |
| Elevated CTX, n (%) | 2/17 (11.7) | 15/187 (8.0) | .17 |
| P1NP (μg/L), mean ± SD | 99.9 ± 84.9 | 53.4 ± 22.3 | <.0001 |
| Elevated P1NP, n (%) | 10/17 (58.8) | 35/187 (19.2) | .0001 |
| Mutation type, n (%) | 1.0 | ||
| Missense | 19 (94.4) | 184 (91.0) | |
| Truncating | 1 (5.6) | 18 (8.9) | |
| Sites affected, n (%) | |||
| 1 | 10 (50.0) | – | |
| 2 | 6 (30.0) | – | |
| ≥3 | 4 (20.0) | – |
| Variable | Lesion (n = 20) | No lesion (n = 202) | p |
| Age (years), mean ± SD | 53.6 ± 9.1 | 49.8 ± 9.0 | .07 |
| Gender | .95 | ||
| Male, n (%) | 10 (50.0) | 90 (44.5) | |
| Female, n (%) | 10 (50.0) | 112 (55.4) | |
| Serum calcium (mmol/L), mean ± SD | 2.41 ± 0.16 | 2.40 ± 0.11 | .63 |
| Serum 25(OH)D (nmol/L), mean ± SD | 50.1 ± 26.2 | 52.2 ± 29.7 | .76 |
| Adjusted ALP (AU), mean ± SD | 0.75 ± 0.69 | 0.42 ± 0.29 | <.0001 |
| Elevated ALP, n (%) | 4/20 (20.0) | 16/198 (8.0) | .007 |
| uNTX/Cr (nM/mM), mean ± SD | 305.5 ± 808.6 | 51.9 ± 51.9 | <.0001 |
| Elevated uNTX/Cr, n (%) | 10/15 (66.6) | 5/132 (3.8) | .0075 |
| BAP (U/L), mean ± SD | 15.1 ± 12.8 | 10.4 ± 7.0 | .015 |
| Elevated BAP, n (%) | 1/17 (5.8) | 1/186 (0.5) | .16 |
| CTX (μg/L), mean ± SD | 0.44 ± 0.26 | 0.32 ± 0.15 | .004 |
| Elevated CTX, n (%) | 2/17 (11.7) | 15/187 (8.0) | .17 |
| P1NP (μg/L), mean ± SD | 99.9 ± 84.9 | 53.4 ± 22.3 | <.0001 |
| Elevated P1NP, n (%) | 10/17 (58.8) | 35/187 (19.2) | .0001 |
| Mutation type, n (%) | 1.0 | ||
| Missense | 19 (94.4) | 184 (91.0) | |
| Truncating | 1 (5.6) | 18 (8.9) | |
| Sites affected, n (%) | |||
| 1 | 10 (50.0) | – | |
| 2 | 6 (30.0) | – | |
| ≥3 | 4 (20.0) | – |
Values are mean ± SD or numbers and percentages. The p values refer to differences between groups assessed by t test for continuous variables or Fisher's exact test for categorical variables. Serum calcium values were adjusted for albumin.
ALP = total alkaline phosphatase; AU = arbitary units; BAP = bone‐specific alkaline phosphatase; CTX = C‐terminal collagen crosslinks; P1NP = procollagen type‐I N‐terminal propeptide fragment; uNTX/Cr = urinary N‐telopeptide collagen crosslinks/urine creatinine.
Characteristics of Participants With and Without Lesions
| Variable | Lesion (n = 20) | No lesion (n = 202) | p |
| Age (years), mean ± SD | 53.6 ± 9.1 | 49.8 ± 9.0 | .07 |
| Gender | .95 | ||
| Male, n (%) | 10 (50.0) | 90 (44.5) | |
| Female, n (%) | 10 (50.0) | 112 (55.4) | |
| Serum calcium (mmol/L), mean ± SD | 2.41 ± 0.16 | 2.40 ± 0.11 | .63 |
| Serum 25(OH)D (nmol/L), mean ± SD | 50.1 ± 26.2 | 52.2 ± 29.7 | .76 |
| Adjusted ALP (AU), mean ± SD | 0.75 ± 0.69 | 0.42 ± 0.29 | <.0001 |
| Elevated ALP, n (%) | 4/20 (20.0) | 16/198 (8.0) | .007 |
| uNTX/Cr (nM/mM), mean ± SD | 305.5 ± 808.6 | 51.9 ± 51.9 | <.0001 |
| Elevated uNTX/Cr, n (%) | 10/15 (66.6) | 5/132 (3.8) | .0075 |
| BAP (U/L), mean ± SD | 15.1 ± 12.8 | 10.4 ± 7.0 | .015 |
| Elevated BAP, n (%) | 1/17 (5.8) | 1/186 (0.5) | .16 |
| CTX (μg/L), mean ± SD | 0.44 ± 0.26 | 0.32 ± 0.15 | .004 |
| Elevated CTX, n (%) | 2/17 (11.7) | 15/187 (8.0) | .17 |
| P1NP (μg/L), mean ± SD | 99.9 ± 84.9 | 53.4 ± 22.3 | <.0001 |
| Elevated P1NP, n (%) | 10/17 (58.8) | 35/187 (19.2) | .0001 |
| Mutation type, n (%) | 1.0 | ||
| Missense | 19 (94.4) | 184 (91.0) | |
| Truncating | 1 (5.6) | 18 (8.9) | |
| Sites affected, n (%) | |||
| 1 | 10 (50.0) | – | |
| 2 | 6 (30.0) | – | |
| ≥3 | 4 (20.0) | – |
| Variable | Lesion (n = 20) | No lesion (n = 202) | p |
| Age (years), mean ± SD | 53.6 ± 9.1 | 49.8 ± 9.0 | .07 |
| Gender | .95 | ||
| Male, n (%) | 10 (50.0) | 90 (44.5) | |
| Female, n (%) | 10 (50.0) | 112 (55.4) | |
| Serum calcium (mmol/L), mean ± SD | 2.41 ± 0.16 | 2.40 ± 0.11 | .63 |
| Serum 25(OH)D (nmol/L), mean ± SD | 50.1 ± 26.2 | 52.2 ± 29.7 | .76 |
| Adjusted ALP (AU), mean ± SD | 0.75 ± 0.69 | 0.42 ± 0.29 | <.0001 |
| Elevated ALP, n (%) | 4/20 (20.0) | 16/198 (8.0) | .007 |
| uNTX/Cr (nM/mM), mean ± SD | 305.5 ± 808.6 | 51.9 ± 51.9 | <.0001 |
| Elevated uNTX/Cr, n (%) | 10/15 (66.6) | 5/132 (3.8) | .0075 |
| BAP (U/L), mean ± SD | 15.1 ± 12.8 | 10.4 ± 7.0 | .015 |
| Elevated BAP, n (%) | 1/17 (5.8) | 1/186 (0.5) | .16 |
| CTX (μg/L), mean ± SD | 0.44 ± 0.26 | 0.32 ± 0.15 | .004 |
| Elevated CTX, n (%) | 2/17 (11.7) | 15/187 (8.0) | .17 |
| P1NP (μg/L), mean ± SD | 99.9 ± 84.9 | 53.4 ± 22.3 | <.0001 |
| Elevated P1NP, n (%) | 10/17 (58.8) | 35/187 (19.2) | .0001 |
| Mutation type, n (%) | 1.0 | ||
| Missense | 19 (94.4) | 184 (91.0) | |
| Truncating | 1 (5.6) | 18 (8.9) | |
| Sites affected, n (%) | |||
| 1 | 10 (50.0) | – | |
| 2 | 6 (30.0) | – | |
| ≥3 | 4 (20.0) | – |
Values are mean ± SD or numbers and percentages. The p values refer to differences between groups assessed by t test for continuous variables or Fisher's exact test for categorical variables. Serum calcium values were adjusted for albumin.
ALP = total alkaline phosphatase; AU = arbitary units; BAP = bone‐specific alkaline phosphatase; CTX = C‐terminal collagen crosslinks; P1NP = procollagen type‐I N‐terminal propeptide fragment; uNTX/Cr = urinary N‐telopeptide collagen crosslinks/urine creatinine.
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