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. 2024 Apr;144(4):820–832.e9. doi: 10.1016/j.jid.2023.09.008

Supplementary Table S1.

Systemic Calcium Metabolic Profiling in Patients with SWS and PPV-DM

Patient No. Sex Genotype Age, years Ionized calcium Total calcium Phosphate PTH ALP 25-hydroxy-vitamin D 1,25-dihydroxy-vitamin D FGF23 (c-terminal fragment) FGF23 (intact molecule) Urine Ca/Cr ratio TRP (%) TmP/GFR E-GFR
1 F GNAQ c.548G>A, p.R183Q 3.8 1.23 2.39 1.33 1.6 221 89 - - - Increased - - 90.2
4.8 1.03 (low) 2.00 (low) 1.66 8.3 (high) 177 94 - 69 55.4 - - - 107.8
5.3 1.25 2.30 1.64 1.5 154 95 126 - - Normal 85.8 1.41 80.8
2 M GNAQ and GNA11
WT		 3.1 1.24 2.24 1.59 1.5 236 72 - - - - -
4.3 1.10 (low) 2.10 (low) 1.88 (high) 5.6 196 107 149 74 39.3 Decreased 91.4 1.72 -
4.8 1.21 2.20 (low) 1.58 0.3 (low) 164 101 - - - Normal 94.1 1.49 112.8
3 M GNAQ c.548G>A, p.R183Q 16.1 1.22 2.23 1.04 0.3 (low) 146 (high) 53 - - - - - - 70.7
17.2 1.19 (low) 2.20 0.98 1.8 103 76 100 (low) 79 56.9 Normal 95.8 1.28 82.2
4 F - 4.0 1.22 2.40 1.32 4.4 239 95 - - - Normal - - -
5.0 1.26 2.30 1.47 5.5 186 105 - 71 - - - - 120.9
5 M - 15.9 1.24 2.1 0.98 1.3 78 174 - - - Normal - - 128.6
17.4 1.21 2.20 1.04 2.3 76 67 77 (low) - - Normal 91.3 0.95 106.2
6 M - 2.7 1.22 2.20 (low) 1.54 3.5 109 (low) 79 - - - - - - 94.1
7 F GNAQ c.548G>A, p.R183Q 11.0 - 2.30 1.53 4.8 300 57 - - - Normal - - 136.1
12.1 1.19 (low) 2.20 1.54 6.1 (high) 245 107 174 - - Normal 93.8 1.44 120.1
12.4 1.20 (low) 2.20 1.64 3.2 238 85 138 84 43.9 Normal 96.5 1.58 97.36
8 M GNAQ c.548G>A, p.R183Q 1.9 1.24 2.30 1.58 3.0 175 97 - - - - - -
3.1 1.19 2.30 1.78 1.5 417 (high) 83 109 355 (high) 59.2 - - - 133.9
9 F GNAQ c.548G>A, p.R183Q 11.8 1.12 (low) 2.16 (low) 1.45 2.6 174 78 - - - Normal - - 122.6
10 M GNAQ c.548G>A, p.R183Q 11.6 1.22 2.27 1.34 0.8 306 81 - - - Normal - - 114.4
11 M - 15.0 1.13 (low) 2.09 (low) 1.20 4.4 86 (low) 57 - - - Normal - - 127.1
16.0 1.19 (low) 2.10 1.4 2.1 70 79 63 (low) 63 56.5 Normal 97.2 1.36 137.3
16.5 1.20 2.20 1.21 2.0 62 - 53 (low) - - Normal 98.3 1.19 100.2
12 M - 2.4 - 2.27 1.59 1.4 139 (low) 90 - - - - - - 122.4
3.6 1.19 2.20 (low) 1.76 9.9 (high) 140 (low) 117 97 (low) 43 - Increased 85.8 1.51 73.47
13 F GNAQ c.548G>A, p.R183Q 9.2 1.26 2.45 1.05 (low) 3.0 132 118 - - - - - - 125.5
10.2 1.31 2.5 1.19 3.2 163 125 140 124 (high) 76.5 - - - 105.4
10.5 1.32 (high) 2.4 1.28 3.3 160 105 - 68 82.3 - - - 112.3
14 F GNAQ c.548G>A, p.R183Q 9.4 1.17 (low) 2.26 1.57 4.4 128 (low) 66 - - - Normal - - 108.9
10.6 1.25 2.20 1.45 1.0 130 87 99 (low) - - - - - -
15 M GNAQ c.548G>A, p.R183Q 11.8 1.22 2.26 1.29 4.4 171 (low) 111 - - - - - - -
16 M - 1.4 - 2.46 (high) 1.58 0.9 317 114 - - - - - - -
2.7 1.22 2.30 1.43 0.6 (low) 259 131 145 23 33.7 - - -- 83.3
17 F - 4.0 1.25 2.31 1.52 1.6 217 81 - - - Normal - - 92.61
18 F GNAQ c.548G>A, p.R183Q 0.7 1.26 2.64 (high) 1.77 8.9 (high) 171 130 - - - Increased - - -
1.1 - 2.30 2.21 (high) - 225 122 - - - - - - 97.16
19 M GNAQ c.548G>A, p.R183Q 10.9 1.15 (low) 2.06 (low) 1.37 2.4 198 97 - - - Normal - - 121.64
12.3 1.19 (low) 2.10 (low) 1.74 2.2 103 (low) 51 102 (low) - - Normal 98.9 1.72 148.1
20 M - 10.8 1.18 (low) 2.25 1.71 1.5 154 62 - - - Decreased - - 181.6
12.1 1.20 (low) 2.20 1.64 0.9 137 (low) 60 - - - Decreased - - 133.3
21 M GNAQ and GNA11
WT		 5.5 1.19 (low) 2.20 (low) 1.54 4.5 277 70 - - - Normal - - 135.6
22 M GNAQ c.548G>A, p.R183Q 11.2 1.21 (low) 2.22 1.65 1.5 197 (low) 82 - - - Normal - - 152.6
23 M GNAQ c.548G>A, p.R183Q 13.7 1.15 (low) 2.08 (low) 1.50 7.4 (high) 353 55 - - - Normal - - 105.9
24 F GNAQ c.548G>A, p.R183Q 10.3 1.25 2.15 (low) 1.30 2.3 279 97 - - - Decreased - - 122.12
25 F - 9.6 1.14 (low) 2.02 (low) 1.46 4.8 205 64 - - - Normal - - 137.5
10.5 0.78 (low) 1.90 (low) 2.00 (high) 3.5 230 88 128 35 73.2 Normal 93.8 1.88 114.9
10.9 1.15 (low) 2.0 (low) 1.51 1.9 302 80 103 (low) - - Normal 92.1 1.39 111.9
26 F GNAQ c.548G>A, p.R183Q 6.00 1.24 2.23 1.56 2.1 359 60 - - Normal - - 146.0
6.8 1.28 2.30 1.49 3.3 462 (high) 73 218 - - Normal 96.5 1.44 159.56
27 F GNAQ c.548G>A, p.R183Q 2.4 1.14 (low) 2.16 (low) 1.62 5.9 (high) 226 132 - - Normal - - -
3.3 1.19 2.20 (low) 1.49 5.1 253 135 196 167 (high) 24.9 - - - 120.21
3.8 1.25 2.20 (low) 1.49 0.8 258 116 139 - - Normal 97.6 1.38 -
28 F - 15.4 1.11 (low) 2.20 1.38 2.30 66 66 - 163 (high) - - - - 100.2
29 F - 1.3 1.29 2.30 1.56 3.9 125 85 - 137 (high) 50.9 - - - 102.1
30 M GNA11 c.547C>T, p.R183C 5.9 1.19 (low) 2.20 (low) 1.81 (high) 3.6 221 80 - - - - - - 113.2
6.7 1.24 2.20 (low) 1.32 1.6 141 (low) 121 - - - Normal 93.8 1.24 148.6
31 M GNAQ c.548G>A, p.R183Q 4.3 1.12 (low) - - 6.6 (high) - 99 - - - Normal - - -
321 F GNA11 c.547C>T, p.R183C 10.5 1.27 2.34 1.29 0.8 248 103 - - - Increased - - 112.6
11.5 - 2.30 1.34 4.3 157 125 201 110 (high) 23.6 (low) Normal 94.1 1.26 97.3
331 F GNA11 c.547C>T, p.R183C 8.4 1.24 2.30 1.45 1.8 260 52 - - Normal - - 91.7
9.1 1.22 2.30 1.38 1.1 228 68 146 - - Normal 86.9 1.2 86.1
341 F GNAQ c.548G>A, p.R183Q 7.6 1.22 2.26 1.56 1.8 170 (low) 65 - - - Normal - - 72.5
351 F GNAQ and GNA11
WT		 14.3 - 2.20 1.23 7.8 (high) 83 58 - - - Normal - - 88.8
14.7 1.20 (low) 2.20 1.31 10.5 (high) 68 35 (low) - - - - - - 93.2
15.7 1.24 2.10 1.47 (high) 5.0 61 71 - - - Normal 91.4 1.34 90.6
36 F GNA11 c.547C>T, p.R183C 6.3 1.18 (low) 2.27 1.58 2.6 218 64 - - - Normal - - 103.4
7.2 1.23 2.30 1.47 2.7 163 (low) 52 - - - - - - 116.8
7.7 1.30 2.30 1.38 3.5 197 71 159 53 44.1 Increased 90.2 1.24 117.6
371 M GNA11 c.547C>T, p.R183C 3.8 - 2.22 1.92 (high) 5.1 193 50 - - - Normal - - -
4.7 1.26 2.30 1.92 (high) 1.7 166 98 - 137 (high) - Normal - 129.7
5.1 1.19 (low) 2.30 1.83 (high) 0.7 161 76 134 66 - Normal 87.5 1.6 109.5
381 M GNAQ c.548G>A, p.R183Q 12.6 1.18 (low) 2.17 (low) 1.65 3.8 219 75 - - - Normal - - 120.8
13.6 1.22 2.2 1.46 4.3 203 83 113 74 51.8 Normal 91.6 1.34 106.1
39 F GNAQ c.548G>A, p.R183Q 2.0 1.28 2.30 1.66 2.8 185 141 - 134 (high) 52.5 - - - 102.0
40 M GNA11 c.547C>T, p.R183C 9.8 1.29 2.30 1.53 6.6 (high) 215 92 - 200 (high) 39.0 Normal - - 110.7
10.4 1.26 2.30 1.41 1.9 230 84 122 - - Normal 94.2 1.33 108.7
41 F - 1.5 1.30 2.20 1.96 6.6 (high) 129 (low) 116 138 - 56.3 Normal 86.2 1.69 109.5
42 M - 0.2 1.39 2.50 (high) 2.21 (high) 1.50 130 99 - - - Normal 86.9 1.92 -

Abbreviations: cFGF23, C-terminal fragment fibroblast growth factor 23; E-GFR, estimated glomerular filtration rate; iFGF23, intact molecule fibroblast growth factor 23; PTH, Parathyroid hormone; TmP/GFR, ratio of tubular maximum reabsorption of phosphate to glomerular filtration rate; TRP, intact tubular reabsorption of phosphate; WT, wild-type.

Repeat measurements from the same patient are shown on a darker background. All statistical testing was done on values post Vitamin D supplementation and normalization in the few cases where this was required. Ionized calcium was corrected to pH and total calcium to Albumin. Age-adjusted ionized calcium reference ranges: 1.15–1.41 mmol/L (< 2y), 1.19–1.37 mmol/L (2–5y), 1.22–1.31 mmol/L (5–15y). Age-adjusted total calcium reference ranges: 1.96–2.66 mmol/L (0–5d), 2.17–2.44 mmol/L (5d–3y), 2.22–2.51 mmol/L (3–10y), 2.19–2.66 mmol/L (10–15y), 2.10–2.55 mmol/L (>15y). Age-adjusted phosphate reference ranges: 1.5–2.6 mmol/L (0–5d), 1.2-2.1 mmol/L (5d–3y), 1.2–1.8 mmol/L (3–10y), 1.1–1.75 mmol/L (10–15y), 0.8–1.45 mmol/L (>15y). PTH reference range: 0.7–5.6 pmol/L. Age- and sex-adjusted ALP reference ranges: Female, 65–270 U/L (1–7d), 65–365 U/L (7d–1m), 80–425 U/L (1–3m), 80–345 U/L (3–6m); 60–330 U/L (6–12m), 145–320 U/L (1–3y), 150–380 U/L (3–6y), 175–420 U/L (6–9y), 130–560 U/L (9–11y), 105–420 U/L (11–13y), 70–230 U/L (13–15y), 30–126 U/L (>15y). Male 65–270 U/L (1–7d), 65–365 U/L (7d–1m), 80–425 U/L (1–3m), 80–345 U/L (3–6m); 60–330 U/L (6–12m), 145–320 U/L (1–3y), 150–380 U/L (3–6y), 175–420 U/L (6–9y), 135–530 U/L (9–11y), 200–495 U/L (11–13y), 130–525 U/L (13–15y), 30–126 U/L (>15y). 25-hydroxy-vitamin D reference range: insufficiency (25–50 nmol/L), deficiency (<25 nmol/L). 1,25-dihydroxy-vitamin D reference range: 108–246 pmol/L. FGF23 (C-terminal fragment) reference range: < 100 RU/ml. FGF23 (intact molecule) reference range: 33–100 pg/ml. TRP reference range: 70–100%. Age-adjusted TmP/GFR reference ranges: 1.55–2.97 mmol/L (newborns), 1.07–2.23 mmol/L (1m–2y), 1.10–1.88 mmol/L (2–12y), 0.93–1.71 mmol/L (12–16y), and 0.88–1.26 mmol/L (>16y). EGFR for children and adolescents using Bedside Schwartz Formula (ml/min per 1.73m2).

1

indicates a patient previously reported in Polubothu et al. (2020).