Table 3.

Associated clinical manifestations and treatment during follow-up, for 77 patients with CLCNKB mutations

VariableABS/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)581
Neurologic
 Psychomotor retardation44
 Psychiatric follow-up5
 Speech therapy34
 Neurologic follow-up221
Renal abnormalities
 Renal hypoplasia2
 Hyperechogenic kidney24
 Cyst23
Urological abnormalities
 Hydroureteronephrosis11
 Vesico-ureteral reflux1
 Anterior urethral valves1
Proteinuria≥50 mg/dl4/174/171/8
Nephrolithiasis25
Nephrocalcinosisa34
Cardiovascular manifestations irregular heart rate or ECG abnormalities (details in the text)131
Treatment
 Continuous enteral nutrition74
 NaCl supplementation2117
 KCl supplementation24276
  • —, None; ECG, Electrocardiogram; NaCl, Sodium Chloride; KCl, Potassium Chloride.

  • a Detected during follow-up and reported in the medical chart.