Table 1.
Clinical features and biochemical data of the female child at the age of symptom-onset, diagnosis and the last follow-up visit
| Items | Age of onset | Age of diagnosis | Current age | Normal range |
|---|---|---|---|---|
| Age (yrs) | 0.33 | 2.5 | 4.5 | |
| Manifestation | Vomiting | Growth retardation | Growth normal | |
| Height (cm) | 60.0 (15th percentile)a | 84.0 (< 3rd percentile)a | 110.0 (+1SD)a | |
| Weight (kg) | 5.4 (<15th percentile)a | 10.1 (<3rd percentile)a | 19.8 (+1SD)a | |
| Blood pH | 7.20 | 7.28 | 7.40 | 7.35–7.45 |
| Serum K+ (mmol/l) | 2.2 | 2.7 | 4.4 | 3.5–5.5 |
| Serum Na+ (mmol/l) | 140 | 138 | 140 | 135–145 |
| Serum Cl− (mmol/l) | 112 | 115 | 105 | 99–110 |
| Serum CO2CP (mmol/l) | 18.0 | 16.7 | 24.5 | 22–28 |
| Serum ionized Ca2+ (mmol/l) | 1.28 | 1.33 | 1.20 | 1.10–1.30 |
| Serum Cr (μmol /l) | 25 (16–26)b | 29 (17.7–88.4)b | 40 (17.7–88.4)b | |
| GFR (ml/min/1.73m2)c | 87 (39–114)b | 105 (89–165)b | 100 (89–165)b | |
| Nephrocalcinosis | NA | Yes | Yes | Negative |
| Urinary pH | 7.5 | 7.0 | 7.0 | < 5.5 |
| Urinary Ca/Cr ratio (mg/mg) | NA | 0.63 (0.02–0.50)b | 0.35 (0.02–0.41)b | |
| Proteinuria | Negative | Negative | Negative | Negative |
K potassium, Na sodium, Cl chloridion, CO2CP Carbon Dioxide Combining Power, Ca calcium, Cr creatinine, GFR glomerular filtration rate, apercentiles/standard deviation (SD) scores for height or weight,bFigures in the brackets indicate normal ranges of the corresponding age, cGFR was estimated by Schwartz equation, NA Not available.