Bartter’s syndrome is an autosomal recessive condition which results in severe hypokalaemia.
It is caused by defective chloride ion reabsorption in the Na-K-2Cl channels in the loop of Henle.
It presents in early childhood with:
- Failure to thrive
- Polyuria
- Polydipsia
Note blood pressure is normal (in contrast to Liddle’s syndrome, in which it is high)
Biochemically there is:
- Metabolic alkalosis
- Hypokalaemia
- High urinary potassium and sodium
- Hypercalciuria
- Hyperreninaemia
Treatment:
- Potassium replacement
- NSAIDs – usually indomethacin
Patients who are untreated may have a slightly lowered IQ.
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