Table 3.
Associated clinical manifestations and treatment during follow-up, for 77 patients with CLCNKB mutations
| Variable | ABS/NBS (n=26) | CBS (n=35) | GLS (n=16) |
|---|---|---|---|
| Follow-up duration, median (range) | 7.5 (1–36) | 8 (1–41) | 8 (1–28.5) |
| Growth retardation (below −2 SD) | 5 | 8 | 1 |
| Neurologic | |||
| Psychomotor retardation | 4 | 4 | — |
| Psychiatric follow-up | — | 5 | — |
| Speech therapy | 3 | 4 | — |
| Neurologic follow-up | 2 | 2 | 1 |
| Renal abnormalities | |||
| Renal hypoplasia | 2 | — | — |
| Hyperechogenic kidney | 2 | 4 | — |
| Cyst | 2 | 3 | — |
| Urological abnormalities | |||
| Hydroureteronephrosis | 1 | 1 | — |
| Vesico-ureteral reflux | — | 1 | — |
| Anterior urethral valves | 1 | — | — |
| Proteinuria≥50 mg/dl | 4/17 | 4/17 | 1/8 |
| Nephrolithiasis | 2 | 5 | — |
| Nephrocalcinosisa | 3 | 4 | — |
| Cardiovascular manifestations irregular heart rate or ECG abnormalities (details in the text) | 1 | 3 | 1 |
| Treatment | |||
| Continuous enteral nutrition | 7 | 4 | — |
| NaCl supplementation | 21 | 17 | — |
| KCl supplementation | 24 | 27 | 6 |
—, None; ECG, Electrocardiogram; NaCl, Sodium Chloride; KCl, Potassium Chloride.
a
Detected during follow-up and reported in the medical chart.