Table 3.
Clinical Data for Kindreds A, C, and D[Note]
| Kindredand Individual | Age atMeasurement(years) | SerumPhosphatea(mmol/liter) | TRPb(%) | UrineCalcium/Creatininea(mmol/mmol) | Serum1,25(OH)2Da |
| Kindred A: | |||||
| IV-3 | 32–35 | .72–1.04 (.85–1.20) | 91–96 | .23–.64 (<.4) | 46–140 (15–60) pg/ml |
| IV-4 | 31–34 | .68–.94 (.85–1.20) | 81–88 | .38–.74 (<.4) | 22–66 (15–60) pg/ml |
| V-1 | 8–13 | .71–.86 (1.20–1.70) | 70–75 | .95–1.4 (<.4) | 73–103 (30–70) pg/ml |
| V-2 | 6 | 1.35 (1.20–1.70) | 91 | .33 (<.4) | 40 (30–70) pg/ml |
| V-3 | 1.6 | 1.85 (1.50–1.80) | 80 | 1.44 (<1.0) | 38 (30–120) pg/ml |
| Kindred C: | |||||
| I-1 | 48 | .42 (.81–1.45) | 78 | .14 (<.4) | 72 (20–65) pg/ml |
| I-2 | 45 | 1.03 (.81–1.45) | 88 | .51 (<.4) | 68 (20–65) pg/ml |
| II-1 | 15 | 1.00 (.97–1.61) | 93 | .11 (<.4) | ND |
| II-2 | 14 | .77 (.97–1.61) | 82 | .64 (<.4) | 97 (20–65) pg/ml |
| Kindred D: | |||||
| I-2 | 48 | .74–.89 (.79–1.37) | ND | .50 (<.4) | 96 (38–162) pmol/liter |
| I-3 | 36 | .97 (.79–1.37) | ND | 1.00 (<.4) | 79 (38–162) pmol/liter |
| II-1 | 19 | .90 (.79–1.37) | ND | .66 (<.4) | 68 (38–162) pmol/liter |
| II-2 | 17 | .80 (.79–1.37) | ND | .61 (<.4) | 94 (38–162) pmol/liter |
| II-3 | 14 | .75–.93 (.95–1.85) | 80 | .57 (<.4) | 240 (38–162) pmol/liter |
| II-4 | 11 | .75–.91 (.95–1.85) | 89 | 1.03 (<.4) | 344 (38–162) pmol/liter |
| II-5 | 9 | .77–1.13 (.95–1.85) | 87 | .79 (<.4) | >566 (38–162) pmol/liter |
| II-6 | 16 | .96 (.79–1.37) | ND | .24 (<.4) | 68 (38–162) pmol/liter |
Note.— The IDs of individuals with compound heterozygous SLC34A3 mutations are indicated in bold italics. ND = not determined.
a
Given in parentheses are age-dependent normal values.
b
Calculated as 100 × [1 − (urine phosphate × serum creatinine)/serum phosphate × urine creatinine)]; normal range is 85%–95%.