Table 2.
Clinical, imaging, and biochemical features of patients
| Patient A (UK) | Patient B (Macedonia) | |
|---|---|---|
| Age (years) | 48 | 1 |
| Renal imaging | Bilateral radiopaque calculi | Bilateral medullary nephrocalcinosis |
| Plasma phosphate (mmol/L) | 0.7–1.2 (↓‐↔) | 0.52 (↓) |
| Plasma bicarbonate (mmol/L) | 17 | 20 |
| Plasma calcium (mmol/L) | 2.1 (↔) | 2.1 (↔) |
| Plasma creatinine (μmol/L) | 265 (↑) | 36(↔) |
| eGFR (mL/min/1.73 m2) | 23 (CKD‐EPI) | 66 (New Schwartz formula) |
| Total Vitamin D (nmol/L) | 89 | N/A |
| 1,25‐(OH)2 D3 (pg/mL) | 30 (↓) | 24 (↓) |
| iFGF23 (ng/L) | 380 (↑) | 152 (↑) |
| Urine pH | 7.0 | 5.5 |
| Urine calcium/creatinine ratio (mmol/mmol creatinine) | 0.315(↔) | 0.42(↔) |
| Fractional excretion of phosphate (NR 10–20%) | 79% (↑) | 49% (↑) |
CKD‐EPI, Chronic Kidney Disease Epidemiology Collaboration formula for estimating GFR; eGFR, estimated glomerular filtration rate; N/A, not available; NR, normal range.