Table 1.
Clinical and laboratory details
| Parameter | Sibling 1 (S1) | Sibling 2 (S2) |
|---|---|---|
| Age | 10 years | 3 years |
| Sex | Female | Male |
| Height | 132 cm | 85 cm |
| Weight | 23.1 kg | 10.5 kg |
| BMI | 13.3 kg/m2 | 14.5 kg/m2 |
| Blood pressure | 104/68 mmHg | 84/54 mmHg |
| Fundus | Normal | Normal |
| ENT-audiogram | Normal | Normal |
| Systemic examination | Within normal limits | Within normal limits |
| Serum creatinine | 1.2 mg/dl | 0.3 mg/dl |
| eGFR (Schwartz formula) | 45.4 ml/min/1.73m2 | 117 ml/min/1.73m2 |
| Urine routine | Occ. RBC and plenty of pus cells/hpf | Plenty of RBCs and pus cells/hpf |
| Urine spot protein creatinine ratio | 0.43 | 0.24 |
| Serum sodium | 141 mEq/L | 137 mEq/L |
| Serum potassium | 4.0 mEq/L | 4.0 mEq/L |
| Serum bicarbonate | 22 mEq/L | 21 mEq/L |
| Serum calcium | 9.2 mg/dl | 8.2 mg/dl |
| Serum phosphorus | 5.3 mg/dl | 3.9 mg/dl |
| Serum magnesium | 1.0 mg/dl | 1.2 mg/dl |
| Serum uric acid | 6.3 mg/dl | 5.1 mg/dl |
| Vitamin D | 39.6 ng/ml | 32.5 ng/ml |
| Serum PTH | 125.5 pg/ml | 480 pg/ml |
BMI: Body mass index, RBC: Red blood cell, ENT: Ear Nose and Throat examination, eGFR: Estimated Glomerular filtration rate, PTH: Parathyroid Hormone