Table 5.
- Clinical presentation and chemistry results among patients with FHHNC and dRTA.
| Characteristics | FHHNC | dRTA | |
|---|---|---|---|
| n (%) | |||
| Clinical presentation | |||
| Accidental discovery | 5 (29.4) | 2 (14.3) | |
| FTT | 4 (23.5) | 12 (85.7) | |
| UTI | 7 (41.2) | 0 (0.0) | |
| Hematuria | 1 (5.9) | 0 (0.0) | |
| Loin pain | 0 (0.0) | 0 (0.0) | |
| Urine results | FHHNC | dRTA | Normal range |
|---|---|---|---|
| Mean (95% CI) | |||
| Calcium/creatinine (mmol/mmol) | 2.43 (1.62-3.24) | 1.51 (0.74-2.28) | 1-3 years: >1.5 |
| 4-7 years: >1 | |||
| 8-14 years:>0.7 | |||
| FEMg% (mean) | 15.46 (11.09-19.82) | 2.52 (1.24-3.79) | <5% |
| TRP% (mean) | 90.66 (86.48-94.84) | 83.66 (76.92-90.41) | 78-91% |
| Serum results (mmol/L) | |||
| Serum sodium | 139.3 (138.50-140.27) | 140.6 (138.60-142.72) | 136-145 |
| Serum potassium | 3.87 (3.61-4.13) | 3.14 (2.90-3.38) | 3.5-5.1 |
| Serum chloride | 100.94 (98.88-103.00) | 109.53 (105.51-113.54) | 98-107 |
| pH | 7.48 (7.46-7.50) | 7.25 (7.21-7.30) | 7.35-7.45 |
| Serum HCO3 (mmol) | 29.83 (29.31-30.35) | 17.80 (16.21-19.38) | 22-26 |
| Serum calcium | 2.24 (2.15-2.33) | 2.28 (2.22-2.33) | 2.12-2.52 |
| Serum phosphate | 1.38 (1.21-1.56) | 1.25 (0.96-1.53) | 0.81-1.58 |
| Serum magnesium | 0.54 (0.50-0.59) | 0.81 (0.76-0.86) | 0.70-1.0 |
| Radiological findings | FHHNC | dRTA |
|---|---|---|
| n (%) | ||
| Stones | 0 (0.00) | 3 (20.0) |
| Nephrocalcinosis | 17 (100) | 12 (80.0) |
| Stone number | ||
| Single stone | 0 (0.00) | 2 (66.7) |
| Multiple stone | 0 (0.00) | 1 (33.3) |
| Stone location | ||
| Kidney | 0 (0.00) | 2 (66.7) |
| Bladder | 0 (0.00) | 0 (0.00) |
| Ureteric | 0 (0.00) | 2 (66.7) |
FHHNC: familial hypomagnesemia with hypercalciuria and nephrocalcinosis, dRTA: distal renal tubular acidosis, FTT: failure to thrive, UTI: urinary tract infection, FEMg%: fraction excretion of magnesium, TRP%: transtubular reabsorption of phosphate, pH: potential of hydrogen, HCO3: bicarbonate