Table 2.
Clinical and laboratory findings and erythrocyte parameters in HS03 family
| AC | M | F | Reference interval | |
|---|---|---|---|---|
| Age (y) | 5 | 41 | 37 | |
| Hemoglobin | 6/4 | 11.6 | 16.3 | 11- 15 g/dl |
| Hematocrit | 18.4 | 33.4 | 45.3 | 33 – 45 % |
| MCHC | 34.8 | 34.7 | 36 | 32 – 36 g/dl |
| RDW | 16/8 | 13.8 | 12.5 | 11 – 15 % |
| Reticulocytes (% ) | 7 | 2.6 | 1.6 | % |
| Conclusion of RBC Fragility | Increased | Increased | Normal | |
| Spherocyte | ++ | + | - | |
| Coombs (direct) | Negative | Negative | Negative | |
| Nephrocalcinosis | Negative | Negative | Negative | |
| Blood pH | 7.32 | 7.38 | 7.31 | |
| Blood pCO2 (mmHg) | 43 | 46 | 59 | |
| Serum HCO3 (meg/I) | 22.2 | 27.2 | 29.7 | |
| Serum calcium (meg/I) | 9.9 | 9.4 | 9.3 | 8.6-10.2 mg/dl |
| Serum phosphate (meg/I) | 5.0 | 4.1 | 4.4 | 2.6-4.5 mg/dl |
| Serum potassium (meg/I) | 3.9 | 4.0 | 4.5 | 3.2-5.3 mEq/l |
| Serum Creatinine (meg/I) | 0.56 | 0.97 | 1.1 | 0.7-1.4 mg/dl |
| Serum sodium (meg/I) | 138 | 136 | 137 | 132-148 mEq/l |
| Vitamin D total (25OH) | 39.3 | 21.8 | 15.9 | Sufficient: >30 ng/ml |
| Urine creatinine (random) | 16 | 61 | 261 | mg/dl |
| Urine calcium (random) | 1.5 | 3.2 | 19 | mg/dl |
| Calcium.R/creatinine. R | 0.094 | 0.052 | 0.073 | |
| Urine chloride (random) | 10.0 | 32.0 | 126 | mEq/l |
| Chloride.R/creatinine. R | 0.63 | 0.52 | 0.48 | |
| Urine potassium (random) | 3.5 | 17 | 117.7 | |
| Urine potassium. R/creatinine. R | 0.22 | 0.28 | 0.45 | |
| Urine sodium (random) | 6.9 | 9.2 | 15.0 | mEq/l |
| Urine Phosphate (random) | 21 | 50 | 37 | mEq/l |
| Urine pH | 6.5 | 6.0 | 6.5 | |
| Urine pH under paraffin | 5.5 | Negative | 5.5 | |
| Deafness/SNHL | Absent | Absent | Absent | |
| kidney stone | Absent | + | Absent | |
| AG | + 17 | 13 | 8.3 | |
| Urine anion gap | + 0.4 | 13.2 | 6 | |
| Delta anion gap | 2.7 | 0.31 | 0.64 |
AC, affected child; SNHL, sensorineural hearing loss