Table 2.
Types | Affected gene | Laboratory findings | Clinical characteristics | References/ PMID |
---|---|---|---|---|
Type I | NKCC2 | Hypokalemia, hypercalciuria, hypercalcemia, increased urinary potassium and chloride | Fetal polyuria, polyhydramnios, nephrocalcinosis, osteopenia | 2872304810,11 |
Type II | ROMK | Hyperkalemia at birth, then hypokalemia; hypercalciuria, increased urinary potassium and chloride, hyposthenuria | Nephrocalcinosis, failure to thrive, osteopenia, vomiting, diarrhea | |
Type III | CIC-Kb | Hypokalemia, metabolic alkalosis, increased urinary potassium and chloride, hypocalciuria or normocalciuria | Short stature, mental retardation, hypotensive | |
Type IVa | BSND | Hypokalemia, hyponatremia, hypochloremia, increased urinary sodium, potassium and chloride | Renal failure, sensorineural deafness, motor retardation | |
Type IVb | CIC-Ka, CIC-Kb | |||
Type V | CaSr | Hypokalemia, metabolic alkalosis, hypocalcemia, hypercalciuria | Nephrocalcinosis, hypotension, seizures |
11
3359715912 |