Table 4.
- Details of genetic analysis.
| Genetic analysis | Diagnostic group | |||
|---|---|---|---|---|
| Metabolic | FHHNC | dRTA | ||
| n (%) | ||||
| No test done | 36 (67.9) | 11 (61.1) | 13 (100) | |
| Positive results | 14 (26.4) | 7 (38.9) | 0 (0.0) | |
| Negative results | 3 (5.8) | 0 (0.0) | 0 (0.0) | |
| AGXT gene | 11 (78.5) | 0 (0.0) | 0 (0.0) | |
| CLDN16 | 0 (0.0) | 7 (100) | 0 (0.0) | |
| SLC3A1 | 3 (21.4) | 0 (0.0) | 0 (0.0) | |
| Genetic analysis | Metabolic group | |||
| Hypercalciuria | Hyperoxaluria | Cystinuria | Hyperuricosuria | |
| n (%) | ||||
| No test done | 11 (85) | 8 (40) | 14 (82.4) | 3 (100) |
| Positive results | 0 (0.0) | 11 (55) | 3 (17.6) | 0 (0.0) |
| Negative results | 2 (15) | 1 (5) | 0 (0.0) | 0 (0.0) |
| AGXT gene | 0 (0.0) | 11 (100) | 0 (0.0) | 0 (0.0) |
| SLC3A1 | 0 (0.0) | 0 (0.0) | 3 (100) | 0 (0.0) |
FHHNC: familial hypomagnesemia with hypercalciuria and nephrocalcinosis, dRTA: distal renal tubular acidosis, AGXT: alanine-glyoxylate and serine-pyruvate aminotransferase, CLDN16: Claudin-16, SLC3A1: solute carrier family 3 member 1, AGXT was homozygous in 9 children and 2 combined heterozygous in 2 children while all mutations of SLC3A1 were homozygous as well as CLDN16 were homozygous in 7 children