Table 1 Results of laboratory investigations in the proband and the mother
Test | Values in the child | Values in the mother | Reference range |
|---|---|---|---|
Serum corrected calcium (mmol/L) | 1.6 | 1.8 | 2.1–2.54 |
Serum phosphate (mmol/L) | 2.71 mmol/L | 1.91 | 0.18–1.45 |
Serum magnesium (mmol/L) | 0.65 mmol/L | 0.62 | 0.66–0.95 |
Parathyroid hormone (PTH) (pg/mL) | 7.1 and 9.2 | 6.8 | 7.5–53.5 |
24-h urinary calcium (mmol/day) | 1.348; adjusted 0.0385 mmoL/kg/day | 3.360; adjusted 0.0412 mmoL/kg/day | normal up to 0.06 mmoL/kg/day |
Total 25-hydroxy vitamin D (ng/mL) | 25.4 | 15.1 | 30–100 |
Serum creatinine (μmol/L) | 65 | 246 | 88–115 |
Blood urea (mmol/L) | 4.6 | 11.2 | 2.5–7.1 |
Serum potassium (mmol/L) | 4.0 | 4.8 | 3.5–4.5 |
Serum sodium (mmol/L) | 137 | 140 | 135–147 |
ALP (IU/L) | 150 | 68 | 44–147 |
Urine full report and cytology | Normal No active sediment | Normal No active sediment | |
Renal sonography | Normal sized, symmetric kidneys | Bilateral chronic renal parenchymal disease |