Table 5.
Conformity between suspected clinical diagnoses and molecular diagnoses and additional clinical advice for modified diagnoses
| Stone type (N) | Suspected Clinical diagnosisa (N) | Molecular diagnosis (N) | Accurate diagnosis | Accuracy rate | Additional clinical adviceb |
|---|---|---|---|---|---|
| Calcium oxalate (CaOx) (160) | Primary hyperoxaluria (91) | AGXT (24) | Yes | 67% | Pyridoxine therapy |
| GRHPR (12) | - | ||||
| HOGA1 (35) | - | ||||
| Negative (30) | No | Monitoring urine oxalate | |||
| Idiopathic hypercalciuria (9) | GRHPR (1) | No | 89% | Alkaline citrate and hydrochlorothiazide therapy; Monitoring kidney function, and urine oxalate | |
| SLC34A3 (1) | Yes | - | |||
| Negative (7) | - | ||||
| Idiopathic hypocitraturia (15) | AGXT (1) | No | 73% | Pyridoxine and alkaline citrate therapy; Monitoring kidney function, and urine oxalate | |
| GRHPR (1) | Alkaline citrate therapy; Monitoring kidney function, and urine oxalate | ||||
| OXGR1 (1) | Alkaline citrate therapy; Monitoring kidney function, and urine oxalate | ||||
| SLC7A9 (1) | Alkaline citrate therapy; Possible treatment with tiopronin | ||||
| Negative (11) | Yes | - | |||
| Idiopathic CaOx (45) | SLC2A9 (2) | No | 93% | Monitoring urine uric acid; Purine reduced diet | |
| HOGA1 (1) | Monitoring kidney function, and urine oxalate | ||||
| Negative (42) | Yes | - | |||
| Cystine (44) | Cystinuria (44) | SLC3A1 (25) | Yes | 98% | - |
| SLC7A9 (18) | - | ||||
| Negative (1) | No | - | |||
| Carbonate apatite (CA) (24) | Primary hyperoxaluria (6) | HOGA1 (2) | Yes | 33% | - |
| SLC26A1 (1) | No | - | |||
| Negative (3) | Monitoring urine oxalate | ||||
| Idiopathic hypocitraturia (2) | AGXT (1) | No | 0 | Pyridoxine and alkaline citrate therapy; Monitoring kidney function, and urine oxalate | |
| SLC34A1 (1) | Alkaline citrate therapy; Monitoring urine calcium | ||||
| Idiopathic hypercalciuria (6) | Negative (6) | Yes | 100% | - | |
| Infection (2) | Negative (2) | Yes | 100% | - | |
| Idiopathic CA (8) | SLC3A1 (1) | No | 88% | Alkaline citrate therapy; Possible treatment with tiopronin | |
| Negative (7) | Yes | - | |||
| Brushite (CHPD) (1) | Renal tubular acidosis (1) | SLC4A1 (1) | Yes | 100% | - |
| Xanthine (1) | Xanthinuria (1) | XDH (1) | Yes | 100% | Purine reduced diet |
| 2,8-dihydroxyadenine (1) | Adenine phosphoribosyltransferase deficiency (1) | APRT (1) | Yes | 100% | Purine reduced diet |
| OCP, UA, AU, MAP (8) | Idiopathic and infection (8) | Negative (8) | Yes | 100% | - |
| Total | 239 | - | - | 81% | - |
AU, ammonium urate; CHPD, calcium hydrogen phosphate dihydrate; MAP, magnesium ammonium phosphate ; OCP, octacalcium phosphate; UA, uric acid.
a
Suspected clinical diagnoses were based on stone analysis and stone-specific metabolic evaluation.
b
All stone formers followed our general prevention advice, such as maintaining fluid intake of 2.5 to 3.0 L/d, a balanced diet rich in vegetables and limited in protein and salt; and normal body mass index with exercise, and monitoring stone recurrence by a regular follow-up.