Characteristics, blood and urine analyses and calcium-loading test of the patients
| Proband | Father | Normal range (95% CI) | |
| BSA (m2) | 1.55 | 1.69 | |
| BMI (kg/m2) | 23.9 | 23.9 | |
| Blood analyses | |||
| Plasma (Na+) (mM) | 141 | 137 | 135 to 145 |
| Plasma (K+) (mM) | 4.0 | 4.6 | 3.3 to 5.1 |
| Plasma (Cl−) (mM) | 106 | 104 | 95 to 105 |
| Plasma (HCO3−) (mM) | 21 | 27 | 21 to 29 |
| Serum (creatinine) (µM) | 42 | 93 | |
| eGFR (CKD-EPI; mL/min/1.73 m2) | 143 | 78 | |
| Hb (g/dL) | 13.8 | N.A. | 12.0 to 16.0 |
| Serum iron (µM) | 14.1 | N.A. | 6.6 to 26.0 |
| Serum ferritin µg/L | 29.0 | N.A. | 15 to 150 |
| Transferrin saturation coefficient (%) | 21.0 | N.A. | 15 to 35 |
| Serum transferrin (g/L) | 2.74 | N.A. | 2.0 to 3.6 |
| Prothrombin time (%) | 91 | N.A. | 70 to 100 |
| Serum albumin | 47.2 | N.A. | 35.0 to 52.0 |
| Calcium-loading test | |||
| Fasting ionised p(Ca2+)(mM) | 1.16 | 1.20 | 1.15 to 1.32 |
| Ionised p(Ca2+) after calcium loading (mM) | 1.22 | 1.22 | 1.15 to 1.32 |
| Fasting Pi (mM) | 1.02 | 0.99 | 0.81 to 1.45 |
| Fasting TmPi/GFR (mM) | 1.01 | 0.79 | 0.76 to 1.62 |
| Fasting (Mg2+) (mM) | 0.93 | 0.97 | 0.66 to 0.99 |
| Fasting 25(OH) vit. D (nM) | 51* | 82 | 75 to 130 |
| 1,25(OH)2 vitamin D (pM) | 157 | 156 | 43 to 168 |
| Fasting (PTH) (ng/L) | 48 | 51 | 15 to 65 |
| (PTH) after calcium loading (ng/L) | 27 | 31 | 15 to 65 |
| Fasting urinary Ca2+ (mM/mM creatinine) | 0.29 | 0.26 | 0.04 to 0.37 |
| Δurinary Ca2+ after calcium loading (mM/mM creatinine) | 1.55* | 0.48 | 0.22 to 0.54 |
| 24-hour urine | Usual range | ||
| Urine output (L/day) | 2.96 | 4.01 | |
| Creatinine (mmol/kg/day) | 0.16 | 0.20 | M: 0.17 to 0.23 |
| F: 0.12 to 0.19 | |||
| Na+ (mmol/day) | 109 | 130 | |
| K+ (mmol/day) | 50 | 115 | |
| Urea (mmol/day) | 251 | 462 | |
| Ca2+ (mmol/day) | 2.96 | 5.3 | M<7.25, F<6.5 |
| Citrate (mmol/day) | 1.18* | 2.73 | >1.67 |
| Oxalate (µmol/day) | 733* | 520* | 40 to 330 |
| Urate (mmol/day) | 2.4 | 4.7 | 1.8 to 4.8 |
| Proteines (g/day) | 0.15 | 0.15 | <0.15 |
| Albumin (mg/day) | 18 | 17 | <30 |
| Fasting urine | |||
| Fasting (creatinine) (mM) | 2.5 | 1.94 | <10 mM |
| pH | 5.65 | 7.08 |
BMI, Body Mass Index; BSA, Body Surface Area; CKD-EPI, Chronic Kidney Disease Epidemiology collaboration equation; eGFR, estimated GFR; Hb, hemoglobin; N.A., not available; pH, potential of Hydrogen; Pi, inorganic phosphate; TmPi/GFR, renal phosphate tubular reabsorption threshold.